Background: Diabetes insipidus (DI) is a rare disorder characterized by inappropriate polyuria and hypo-osmolar urine. It is caused by inadequate production of antidiuretic hormone, in response to hypothalamic osmorec...Background: Diabetes insipidus (DI) is a rare disorder characterized by inappropriate polyuria and hypo-osmolar urine. It is caused by inadequate production of antidiuretic hormone, in response to hypothalamic osmoreceptor-stimulation, from the pituitary gland (central DI) or resistance to its action at terminal distal convoluted tubules and collecting ducts (nephrogenic DI). Most cases of nephrogenic DI are caused by drugs, especially chronic lithium use. The Case: A 46-year-old man manifested such a disorder 8 months following d-Penicillamine (d-P) therapy for cystinuria. The drug was discontinued and the patient was managed conservatively with high fluid intake, diet low in protein and salt as well as alkalization of urine with Urolyte U to a pH > 7.5. Six weeks later, such side effect disappeared. Our patient had developed such phenomenon: a) without significant liver or renal disease to account for cumulative toxicity, and b) with a conventional dosage range of d-P. Such isolated toxicity indicates inherited a predisposition to this side effect. Conclusion: DI is a potential side effect of d-P therapy that is nephrogenic in site, transient in prognosis and an isolated phenomenon likely to reflect genetic predisposition.展开更多
Introduction:Central Diabetes insipidus(CDI)is a rare disorder caused by vasopressin deficiency characterized by the excretion of copious volumes of unconcentrated urine.Objective:To assess the etiological,clinical,bi...Introduction:Central Diabetes insipidus(CDI)is a rare disorder caused by vasopressin deficiency characterized by the excretion of copious volumes of unconcentrated urine.Objective:To assess the etiological,clinical,biochemical and radiological spectrum of Central DI in our institute and long term follow up of these cases.Material and Methods:32 patients with Central DI admitted in Department of Endocrinology,Guwahati Medical College,Assam in the last 2.5 years were included.Detailed clinical assessment,biochemical evaluation and MRI(Magnetic Resonance imaging)brain were done in all the patients.Central DI without any identifiable cause was considered Idiopathic and those with structural lesion in hypothalamic pituitary region were considered organic.Result:Idiopathic CDI was present in 12(37.5%)patients and 20(62.5%)patients had organic CDI with acute onset of presentation.12(60%)patients with organic CDI present with neurological symptoms but 8(40%)patients had no neurological symptoms even with organic cause.Pituitary dysfunction was common in organic CDI as compared to idiopathic CDI.Paediatric patients commonly present with organic cause for CDI with low cortisol most common hormonal deficit.One patient of idiopathic CDI with normal stalk thickness at baseline presented with clinical and radiological features of LCH(Langerhans cell histiocytosis)on follow up.Conclusion:Organic CDI more likely to have acute onset of presentation than idiopathic CDI and even in absence of neurological features.Paediatric patients commonly have organic cause for CDI.We propose the paramount importance of long-term clinical follow-up and reassessment of endocrine function in patients with CDI for definitive diagnosis of autoimmune and inflammatory causes of idiopathic CDI and timely treatment of pituitary hypofunction.展开更多
To detect mutations of the aquaporin 2 gene(AQP2) and the arginine vasopressin V2 receptor gene(AVPR2) of Chinese congenital nephrogenic diabetes insipidus, and to establish the foundation for further studying the...To detect mutations of the aquaporin 2 gene(AQP2) and the arginine vasopressin V2 receptor gene(AVPR2) of Chinese congenital nephrogenic diabetes insipidus, and to establish the foundation for further studying the emergence mechanism of the disease and clinical diagnosis, all the exons and part of introns of AQP2 and AVPR2 genes were amplified with intronic primers, using genomic DNA extracted from three patients with congenital nephrogenic diabetes insipidus and two mothers as template, PCR product was ligated into a T-vector and then sequenced. The result was compared with the database sequence to identify the mutable sites via a BLAST search, the incidence of every mutation was analyzed, and the putative transcription factor binding sites that maybe disturbed were analyzed by MAPPER. Mutation g.1394A〉G in exon 3 of AVPR2 was detected in all the subjects, g.861C〉T(S167L) in exon 2 of AVPR2 and IVS1+3G〉A in intron of AQP2 were detected, respectively, in two patients, and c.836A〉C in 3′ untranslated region of AQP2 was detected in two patients and one mother. Four mutations were identified. g.1394A〉G of AVPR2 and c.836A〉C of AQP2 have high incidence in patients with nephrogenic diabetes insipidus. Detection on the two sites may become auxiliary diagnosis index of congenital nephrogenic diabetes insipidus.展开更多
BACKGROUND Germinoma is a type of germ cell tumor that most frequently arises in the midline axis of the brain.Impaired vision is a clinical manifestation of germinnoma.Although rare,intracranial germinoma seeding to ...BACKGROUND Germinoma is a type of germ cell tumor that most frequently arises in the midline axis of the brain.Impaired vision is a clinical manifestation of germinnoma.Although rare,intracranial germinoma seeding to the perioptic arachnoid space is one cause of visual acuity decrease.CASE SUMMARY An 11yearold girl who presented with polyuria and polydipsia and subsequently developed diminution of vision.Imaging showed bilateral heterogeneous enhancement of the optic nerve sheaths and atrophy of the optic nerve,and transsphenoidal biopsy revealed a germinoma.The patient experienced poor visual recovery following chemotherapy and radiotherapy.Germinomas are rare and they are mostly identified in children and adolescents.The manifestations include diabetes insipidus,pituitary dysfunction,visual complaints,etc.The mechanisms that lead to visual loss include intracranial hypertension,compression of optic chiasma,and tumor invasion.A literature review was performed to summarize the cases with a tumor infiltrating the optic nerve.Most of the reported patients were adolescents and presented with anterior pituitary hormone deficiency.Enhancement of optic nerve sheaths and optic disc pallor could be identified in most of the cases.The purpose of this report is to provide awareness that in cases where a germinoma is associated with visual loss,though rare,perioptic meningeal seeding should be taken into consideration.CONCLUSION The case report suggests that children with diabetes insipidus need a complete differential diagnosis.展开更多
BACKGROUND Congenital nephrogenic diabetes insipidus (CNDI) is a rare hereditary renaldisorder that is caused by mutations in AVPR2 or aquaporin 2 (AQP2). Up tonow, there are few reports about CNDI in neonates. Early ...BACKGROUND Congenital nephrogenic diabetes insipidus (CNDI) is a rare hereditary renaldisorder that is caused by mutations in AVPR2 or aquaporin 2 (AQP2). Up tonow, there are few reports about CNDI in neonates. Early clinical manifestationsof CNDI in neonates are atypical. A lack of understanding of the disease byclinicians causes frequent misdiagnoses or missed diagnoses, which may result infailure to administer treatments in time and ultimately leads to severecomplications. In this study, clinical data of a case of AVPR2 gene mutationinducedCNDI, which was confirmed by genetic testing, were retrospectivelyanalyzed to improve our understanding of this disease.CASE SUMMARY On February 1, 2020, a male neonate was hospitalized 17 d after birth due to a 7 dperiod of pyrexia. The patient’s symptoms included recurrent pyrexia,hypernatremia and hyperchloremia, which were difficult to treat. The patient wasfed on demand, and water was additionally provided between milk intakes. Acombination treatment of hydrochlorothiazide and amiloride was administered.After the treatment, body temperature and electrolyte levels returned to normal,the volume of urine was significantly reduced and the patient was subsequentlydischarged. Genetic tests confirmed that the patient carried the AVPR2 genemissense mutation c.541C>T (P.R181C), and the patient’s mother carried aheterozygous mutation at the same locus. After clinical treatment with acombination of hydrochlorothiazide and amiloride, the body temperature andelectrolyte levels returned to normal. Up until the most recent follow-up examination, normal body temperature, electrolyte levels and growth anddevelopment were observed.CONCLUSION CNDI in the neonatal period is rare, and its clinical manifestations are unspecificwith some patients merely showing recurrent fever and electrolyte disturbance.Genetic testing of AVPR2 and AQP2 can be used for screening and geneticdiagnosis of CNDI.展开更多
BACKGROUND Congenital nephrogenic diabetes insipidus(CNDI)is a rare hereditary disorder.It is associated with mutations in the arginine vasopressin receptor 2(AVPR2)gene and aquaporin 2(AQP2)gene,and approximately 270...BACKGROUND Congenital nephrogenic diabetes insipidus(CNDI)is a rare hereditary disorder.It is associated with mutations in the arginine vasopressin receptor 2(AVPR2)gene and aquaporin 2(AQP2)gene,and approximately 270 different mutation sites have been reported for AVPR2.Therefore,new mutations and new manifestations are crucial to complement the clinical deficiencies in the diagnosis of this disease.We report a case of a novel AVPR2 gene mutation locus and a new clinical manifestation.CASE SUMMARY We describe the case of a 48-d-old boy who presented with recurrent fever and diarrhea 5 d after birth.Laboratory tests showed electrolyte disturbances and low urine specific gravity,and imaging tests showed no abnormalities.Genetic testing revealed a novel X-linked recessive missense mutation,c.283(exon 2)C>T(p.P95S).This mutation results in the substitution of a proline residue with a serine residue in the AVPR2 protein sequence.The diagnosis of CNDI was confirmed based on the AVPR2 gene mutation.The treatment strategy for this patient was divided into two stages,including physical cooling supplemented with appropriate amounts of water in the early stage and oral hydrochlorothiazide(1-2 mg/kg)after a clear diagnosis.After follow-up of one and a half years,the patient gradually improved.CONCLUSION AVPR2 gene mutations in new loci and new clinical symptoms help clinicians understand this disease and shorten the diagnosis cycle.展开更多
HELLP syndrome (Hemolysis, Elevated Liver enzymes, Low Platelets) is considered to be a variant or severe form of pre-eclampsia, a life threatening complication of pregnancy. Gestational Diabetes Insipidus (GDI) can c...HELLP syndrome (Hemolysis, Elevated Liver enzymes, Low Platelets) is considered to be a variant or severe form of pre-eclampsia, a life threatening complication of pregnancy. Gestational Diabetes Insipidus (GDI) can coexist with severe preeclampsia and HELLP syndrome. The combination of these two conditions presents a unique challenge to the anesthesiologist and the obstetric team, caring for this parturient. We present the case of a parturient with an unusual presentation of GDI, coexisting with severe preeclampsia and HELLP syndrome. She had two days history of polyuria and polydipsia as well as lethargy and rapidly rising serum sodium in addition to acute renal failure without any neurologic symptoms. Expeditious delivery of the baby and supportive management is essential for optimal outcomes. She underwent a repeat Cesarean section under combined spinal epidural (CSE) anesthesia. This patient was discharged on postoperative day five after clinical resolution of her signs and symptoms.展开更多
The coexistence of different water homeostasis abnormalities following neurosurgery represents a diagnostic and therapeutic challenge for intensive care units. This paper reports the case of a 13 year-old boy who unde...The coexistence of different water homeostasis abnormalities following neurosurgery represents a diagnostic and therapeutic challenge for intensive care units. This paper reports the case of a 13 year-old boy who underwent surgery for a suprasellar tumour and, immediately after surgery, developed a cerebral abscess, persistent diabetes insipidus (DI) as well as cerebral salt wasting syndrome (CSWS). The early onset of CSWS following DI has been associated with a poor prognosis and increased mortality. In cases in which these abnormalities coexist, the increased polyuria secondary to the rise in natriuresis associated with CSWS might be erroneously interpreted as a sign of poor control of the DI, thereby leading to therapeutic mistakes. Treatment basically consists of restoring electrolytes and the joint administration of desmopressin and fludrocortisone.展开更多
Aim: Many cases of suprasellar region germinoma occurs in diabetes insipidus (DI), but a patient initially may come to the hospital for the chief complaint of visual impairment. The aim of this study is to determine t...Aim: Many cases of suprasellar region germinoma occurs in diabetes insipidus (DI), but a patient initially may come to the hospital for the chief complaint of visual impairment. The aim of this study is to determine the etiology of initial symptom presentation and the outcomes of visual impairment and DI in suprasellar region germinoma. Methods: We investigated eleven cases of single lesion suprasellar germinomas that were diagnosed and treated in our hospital. For each, a magnetic resonance imaging (MRI) was performed. Results: At the hospital visit, decreased visual acuity was found in 5/11 cases, while DI was found in all cases. The decreased visual acuity was improved in 4/5 cases by treatment, but DI improved in only 2/11 cases. In 10 cases, DI occurred earlier than visual impairment. As the initial symptom, visual impairment occurred earlier than DI in only one case and did not improve by treatment. In this case, a pituitary stalk of the normal thickness could be identified by MRI, and the optic nerve was swollen. In ten cases except this case, no significant enlargement of optic nerve was detected, and a swollen pituitary stalk was confirmed. Conclusions: In suprasellar germinomas, it is rare, but the optic nerve can significantly swell at onset, while the pituitary stalk may be intact. In such cases, visual impairment occurs earlier than DI, and visual impairment may not be improved.展开更多
A 20 years old woman, admitted in our Centre at the 6th week of pregnancy, was affected by Central Diabetes Insipidus and since the age of 10 years old she assumed desmopressin at a dose of 30mg/nostril/day. She was p...A 20 years old woman, admitted in our Centre at the 6th week of pregnancy, was affected by Central Diabetes Insipidus and since the age of 10 years old she assumed desmopressin at a dose of 30mg/nostril/day. She was primigravida, with normal past medical history. Fasting blood levels were normal;specific gravity of the urine: 1006;no glucosuria or proteinuria was present. Urinary and plasma osmolality were 245 and 287 mOsm/l;water intake about 2700mL/day;diuresis 2000mL/day. On the basis of the value of urine output and osmolality the dose of desmopressin was Increased at 40 mg/nostril/day. Patient was evaluated every month with fluid balance, urine volume, osmolality, and serum electrolytes. Daily dosage of desmopressin was 40mg/nostril for all the duration of pregnancy according to a trend of an adequate fluid and electrolytes balance and in absence of symptoms. Mean blood Pressure was 100/60 mmHg;coagulation, liver, renal function were normal. Fetal monitoring with periodic ultrasound detected a normal intrauterine growth. Patient had an uncomplicated labor of a healthy male baby at the 39th week. Because of an insufficient dilatation of the cervical canal caesarian section was chosen. Despite a previous Central Diabetes Insipidus may worsen in a pregnant with impaired reserve of Antidiuretic Hormone because of the changes in osmoregulatory system and increased levels of vasopressinasis in middle and late pregnancy, our patient required a slightly higher dose of desmopressin in the first trimester. Contrary to expectations the need of desmopressin did not increase during the weeks.展开更多
The incidence of hyponatremia after spinal cord injury was reported to be between 25 and 80%.Hyponatremia can lead to a variety of clinical symptoms,from mild to severe and even life-threatening.Hyponatremia is often ...The incidence of hyponatremia after spinal cord injury was reported to be between 25 and 80%.Hyponatremia can lead to a variety of clinical symptoms,from mild to severe and even life-threatening.Hyponatremia is often associated with diabetes insipidus,which refers to insufficient arginine vasopressin(AVP)secretion or defective renal response to AVP,with clinical manifestations of syndromes such as hypoosmolality,polydipsia,and polydipsia.Recent mechanistic studies on hyponatremia and diabetes insipidus after acute spinal cord injury have been performed in isolation,without integrating the above two symptoms into different pathological manifestations that occur in the same injury state and without considering the acute spinal cord injury patient’s condition as a whole.The therapeutic principles of CSWS and SIADH are in opposition to one another.It is not easy to identify the mechanism of hyponatremia in clinical practice,which makes selecting the treatment difficult.According to the existing theories,treatments for hyponatremia and diabetes insipidus together are contraindicated,whether the mechanism of hyponatremia is thought to be CSWS or SIADH.In this paper,we review the mechanism of these two pathological manifestations and suggest that our current understanding of the mechanisms of hyponatremia and diabetes insipidus after high acute cervical SCI is insufficient,and it is likely that there are other undetected pathogenetic mechanisms.展开更多
Idiopathetic central diabetes insipidus (CDI) is a heterogeneous hypothalamus-pituitary disease due to the absence or deficiency of arginine vasopressin (AVP).
Langerhans cell histiocytosis(LCH)is an idiopathic group of reactive proliferative diseases linked to aberrant immunity,pathologically characterized by clonal proliferation of Langerhans cells.LCH rarely involves the ...Langerhans cell histiocytosis(LCH)is an idiopathic group of reactive proliferative diseases linked to aberrant immunity,pathologically characterized by clonal proliferation of Langerhans cells.LCH rarely involves the thymus.We report a case of thymic LCH with diabetes insipidus as the first presentation,without evidence of myasthenia gravis and without evidenced involvement of the skin,liver,spleen,bones,lungs and superficial lymph nodes.This present case may have important clinical implications.In screening for LCH lesions,attention should be attached to rarely involved sites in addition to commonly involved organs.Follow-up and imageological examination are very important to a final diagnosis.展开更多
Background As an X-linked recessive way, arginine vasopressin receptor 2(AVPR2) gene mutation resulted in a hereditary disease — congenital nephrogenic diabetes insipidus(CNDI). We found a suspect clinical CNDI pedig...Background As an X-linked recessive way, arginine vasopressin receptor 2(AVPR2) gene mutation resulted in a hereditary disease — congenital nephrogenic diabetes insipidus(CNDI). We found a suspect clinical CNDI pedigree. In order to identify the genetic etiology, we performed the genetic analysis. Methods The clinical features of the proband and his family members were recorded. The laboratory tests and imaging inspections were analyzed. The water deprivation and pituitrin loading test were performed in the proband and his brother. The genomic DNA of all the members of the pedigree was extracted and then PCR amplification on AVPR2 gene was carried out. Sequencing in both directions was performed to identify mutation on AVPR2 gene. Results Both the proband and his brother were diagnosed as CNDI, meanwhile the other members of this pedigree were normal. No severe biochemical abnormality was found in the two CNDI patients. Both the patients had moderate urinary retention, severe megaloureter and hydronephrosis, and mild renal insufficiency. Two mutations of AVPR2 gene were discovered in the 3rd exon in the patients, a silent mutation L309 L and a nonsense mutation R337 X. The AVPR2 gene R337 X mutation was co-segregated with CNDI. R337 X mutation was not a reported mutation in the mainland of China.Conclusion The AVPR2 gene R337 X mutation was also a genetic etiology of CNDI patients in the mainland of China.展开更多
BACKGROUND Langerhans cell histiocytosis(LCH)is characterized by diabetes insipidus and is an uncommon occurrence.Pathological biopsies still have a certain degree of diagnostic probability.We present a case in which ...BACKGROUND Langerhans cell histiocytosis(LCH)is characterized by diabetes insipidus and is an uncommon occurrence.Pathological biopsies still have a certain degree of diagnostic probability.We present a case in which LCH initially affected the pituitary gland.This resulted in a misdiagnosis of chronic inflammation upon pathological examination.CASE SUMMARY A 25-year-old female exhibited symptoms of diabetes insipidus.Magnetic resonance imaging revealed an enhanced foci in the pituitary gland.After surgical resection of the pituitary lesion,the pathological diagnosis was chronic inflam-mation.However,the patient later experienced bone destruction in the skull and lower limb bones.After the lower limb bone lesion was compared with the initial pituitary lesion,the final diagnosis was modified to LCH.The patient was treated with multiple chemotherapy courses.However,the patient’s condition gradually worsened,and she eventually passed away at home.CONCLUSION LCH should be considered when patients exhibit diabetes insipidus and absence of high signal intensity in the pituitary gland on sagittal T1-weighted image and abnormal enhancement in the pituitary region.展开更多
Electric signals from a chest skin electrode can be conducted to the heart and activate contraction. In the present study, normal and diabetic rabbits were stimulated by skin electrode on the abnormal bladder projecti...Electric signals from a chest skin electrode can be conducted to the heart and activate contraction. In the present study, normal and diabetic rabbits were stimulated by skin electrode on the abnormal bladder projection area using three levels of exporting voltage (5.84 V, 8.00 V, and 11.00 V). Results demonstrated significantly attenuated electric signals from both groups, in particular the diabetes group. The skin electrode signals were conducted to the bladders, and all vesical signals increased according to strength of stimulating signals from the skin electrode, However, vesical signals from diabetic rabbits were less than those from normal rabbits at the same stimulating strength of exporting voltage. Vesical pressures from the two groups increased along with increased vesical signals, but vesical pressure was less those from diabetic rabbits than in normal rabbits (basic status and different stimulating levels). Linear correlation analysis showed a significantly positive correlation between vesical pressure and signal. These results demonstrated that electric signals from skin electrodes resulted in increased vesical pressure, and vesical pressure increased along with stimulation strength.展开更多
文摘Background: Diabetes insipidus (DI) is a rare disorder characterized by inappropriate polyuria and hypo-osmolar urine. It is caused by inadequate production of antidiuretic hormone, in response to hypothalamic osmoreceptor-stimulation, from the pituitary gland (central DI) or resistance to its action at terminal distal convoluted tubules and collecting ducts (nephrogenic DI). Most cases of nephrogenic DI are caused by drugs, especially chronic lithium use. The Case: A 46-year-old man manifested such a disorder 8 months following d-Penicillamine (d-P) therapy for cystinuria. The drug was discontinued and the patient was managed conservatively with high fluid intake, diet low in protein and salt as well as alkalization of urine with Urolyte U to a pH > 7.5. Six weeks later, such side effect disappeared. Our patient had developed such phenomenon: a) without significant liver or renal disease to account for cumulative toxicity, and b) with a conventional dosage range of d-P. Such isolated toxicity indicates inherited a predisposition to this side effect. Conclusion: DI is a potential side effect of d-P therapy that is nephrogenic in site, transient in prognosis and an isolated phenomenon likely to reflect genetic predisposition.
文摘Introduction:Central Diabetes insipidus(CDI)is a rare disorder caused by vasopressin deficiency characterized by the excretion of copious volumes of unconcentrated urine.Objective:To assess the etiological,clinical,biochemical and radiological spectrum of Central DI in our institute and long term follow up of these cases.Material and Methods:32 patients with Central DI admitted in Department of Endocrinology,Guwahati Medical College,Assam in the last 2.5 years were included.Detailed clinical assessment,biochemical evaluation and MRI(Magnetic Resonance imaging)brain were done in all the patients.Central DI without any identifiable cause was considered Idiopathic and those with structural lesion in hypothalamic pituitary region were considered organic.Result:Idiopathic CDI was present in 12(37.5%)patients and 20(62.5%)patients had organic CDI with acute onset of presentation.12(60%)patients with organic CDI present with neurological symptoms but 8(40%)patients had no neurological symptoms even with organic cause.Pituitary dysfunction was common in organic CDI as compared to idiopathic CDI.Paediatric patients commonly present with organic cause for CDI with low cortisol most common hormonal deficit.One patient of idiopathic CDI with normal stalk thickness at baseline presented with clinical and radiological features of LCH(Langerhans cell histiocytosis)on follow up.Conclusion:Organic CDI more likely to have acute onset of presentation than idiopathic CDI and even in absence of neurological features.Paediatric patients commonly have organic cause for CDI.We propose the paramount importance of long-term clinical follow-up and reassessment of endocrine function in patients with CDI for definitive diagnosis of autoimmune and inflammatory causes of idiopathic CDI and timely treatment of pituitary hypofunction.
基金the National High Technology Research and Development Program of China(No.2004AA2Z3782)Key Grant of Jilin Science & Technology Committee(No.20060904)+2 种基金Program for New Century Excellent Talents in Universities of China (No.NCET-06-0320)Foundation of Fostering Science and Technology Innovation Program of Northest Normal University (No.NENU-STB07008)Analysis and Testing Foundation of Northest Normal University.
文摘To detect mutations of the aquaporin 2 gene(AQP2) and the arginine vasopressin V2 receptor gene(AVPR2) of Chinese congenital nephrogenic diabetes insipidus, and to establish the foundation for further studying the emergence mechanism of the disease and clinical diagnosis, all the exons and part of introns of AQP2 and AVPR2 genes were amplified with intronic primers, using genomic DNA extracted from three patients with congenital nephrogenic diabetes insipidus and two mothers as template, PCR product was ligated into a T-vector and then sequenced. The result was compared with the database sequence to identify the mutable sites via a BLAST search, the incidence of every mutation was analyzed, and the putative transcription factor binding sites that maybe disturbed were analyzed by MAPPER. Mutation g.1394A〉G in exon 3 of AVPR2 was detected in all the subjects, g.861C〉T(S167L) in exon 2 of AVPR2 and IVS1+3G〉A in intron of AQP2 were detected, respectively, in two patients, and c.836A〉C in 3′ untranslated region of AQP2 was detected in two patients and one mother. Four mutations were identified. g.1394A〉G of AVPR2 and c.836A〉C of AQP2 have high incidence in patients with nephrogenic diabetes insipidus. Detection on the two sites may become auxiliary diagnosis index of congenital nephrogenic diabetes insipidus.
基金Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences,No.2019XK320029National Natural Science Foundation of China,No.91846106Education and Teaching Reform Project of Peking Union Medical College,No.2014zlgc0316.
文摘BACKGROUND Germinoma is a type of germ cell tumor that most frequently arises in the midline axis of the brain.Impaired vision is a clinical manifestation of germinnoma.Although rare,intracranial germinoma seeding to the perioptic arachnoid space is one cause of visual acuity decrease.CASE SUMMARY An 11yearold girl who presented with polyuria and polydipsia and subsequently developed diminution of vision.Imaging showed bilateral heterogeneous enhancement of the optic nerve sheaths and atrophy of the optic nerve,and transsphenoidal biopsy revealed a germinoma.The patient experienced poor visual recovery following chemotherapy and radiotherapy.Germinomas are rare and they are mostly identified in children and adolescents.The manifestations include diabetes insipidus,pituitary dysfunction,visual complaints,etc.The mechanisms that lead to visual loss include intracranial hypertension,compression of optic chiasma,and tumor invasion.A literature review was performed to summarize the cases with a tumor infiltrating the optic nerve.Most of the reported patients were adolescents and presented with anterior pituitary hormone deficiency.Enhancement of optic nerve sheaths and optic disc pallor could be identified in most of the cases.The purpose of this report is to provide awareness that in cases where a germinoma is associated with visual loss,though rare,perioptic meningeal seeding should be taken into consideration.CONCLUSION The case report suggests that children with diabetes insipidus need a complete differential diagnosis.
文摘BACKGROUND Congenital nephrogenic diabetes insipidus (CNDI) is a rare hereditary renaldisorder that is caused by mutations in AVPR2 or aquaporin 2 (AQP2). Up tonow, there are few reports about CNDI in neonates. Early clinical manifestationsof CNDI in neonates are atypical. A lack of understanding of the disease byclinicians causes frequent misdiagnoses or missed diagnoses, which may result infailure to administer treatments in time and ultimately leads to severecomplications. In this study, clinical data of a case of AVPR2 gene mutationinducedCNDI, which was confirmed by genetic testing, were retrospectivelyanalyzed to improve our understanding of this disease.CASE SUMMARY On February 1, 2020, a male neonate was hospitalized 17 d after birth due to a 7 dperiod of pyrexia. The patient’s symptoms included recurrent pyrexia,hypernatremia and hyperchloremia, which were difficult to treat. The patient wasfed on demand, and water was additionally provided between milk intakes. Acombination treatment of hydrochlorothiazide and amiloride was administered.After the treatment, body temperature and electrolyte levels returned to normal,the volume of urine was significantly reduced and the patient was subsequentlydischarged. Genetic tests confirmed that the patient carried the AVPR2 genemissense mutation c.541C>T (P.R181C), and the patient’s mother carried aheterozygous mutation at the same locus. After clinical treatment with acombination of hydrochlorothiazide and amiloride, the body temperature andelectrolyte levels returned to normal. Up until the most recent follow-up examination, normal body temperature, electrolyte levels and growth anddevelopment were observed.CONCLUSION CNDI in the neonatal period is rare, and its clinical manifestations are unspecificwith some patients merely showing recurrent fever and electrolyte disturbance.Genetic testing of AVPR2 and AQP2 can be used for screening and geneticdiagnosis of CNDI.
文摘BACKGROUND Congenital nephrogenic diabetes insipidus(CNDI)is a rare hereditary disorder.It is associated with mutations in the arginine vasopressin receptor 2(AVPR2)gene and aquaporin 2(AQP2)gene,and approximately 270 different mutation sites have been reported for AVPR2.Therefore,new mutations and new manifestations are crucial to complement the clinical deficiencies in the diagnosis of this disease.We report a case of a novel AVPR2 gene mutation locus and a new clinical manifestation.CASE SUMMARY We describe the case of a 48-d-old boy who presented with recurrent fever and diarrhea 5 d after birth.Laboratory tests showed electrolyte disturbances and low urine specific gravity,and imaging tests showed no abnormalities.Genetic testing revealed a novel X-linked recessive missense mutation,c.283(exon 2)C>T(p.P95S).This mutation results in the substitution of a proline residue with a serine residue in the AVPR2 protein sequence.The diagnosis of CNDI was confirmed based on the AVPR2 gene mutation.The treatment strategy for this patient was divided into two stages,including physical cooling supplemented with appropriate amounts of water in the early stage and oral hydrochlorothiazide(1-2 mg/kg)after a clear diagnosis.After follow-up of one and a half years,the patient gradually improved.CONCLUSION AVPR2 gene mutations in new loci and new clinical symptoms help clinicians understand this disease and shorten the diagnosis cycle.
文摘HELLP syndrome (Hemolysis, Elevated Liver enzymes, Low Platelets) is considered to be a variant or severe form of pre-eclampsia, a life threatening complication of pregnancy. Gestational Diabetes Insipidus (GDI) can coexist with severe preeclampsia and HELLP syndrome. The combination of these two conditions presents a unique challenge to the anesthesiologist and the obstetric team, caring for this parturient. We present the case of a parturient with an unusual presentation of GDI, coexisting with severe preeclampsia and HELLP syndrome. She had two days history of polyuria and polydipsia as well as lethargy and rapidly rising serum sodium in addition to acute renal failure without any neurologic symptoms. Expeditious delivery of the baby and supportive management is essential for optimal outcomes. She underwent a repeat Cesarean section under combined spinal epidural (CSE) anesthesia. This patient was discharged on postoperative day five after clinical resolution of her signs and symptoms.
文摘The coexistence of different water homeostasis abnormalities following neurosurgery represents a diagnostic and therapeutic challenge for intensive care units. This paper reports the case of a 13 year-old boy who underwent surgery for a suprasellar tumour and, immediately after surgery, developed a cerebral abscess, persistent diabetes insipidus (DI) as well as cerebral salt wasting syndrome (CSWS). The early onset of CSWS following DI has been associated with a poor prognosis and increased mortality. In cases in which these abnormalities coexist, the increased polyuria secondary to the rise in natriuresis associated with CSWS might be erroneously interpreted as a sign of poor control of the DI, thereby leading to therapeutic mistakes. Treatment basically consists of restoring electrolytes and the joint administration of desmopressin and fludrocortisone.
文摘Aim: Many cases of suprasellar region germinoma occurs in diabetes insipidus (DI), but a patient initially may come to the hospital for the chief complaint of visual impairment. The aim of this study is to determine the etiology of initial symptom presentation and the outcomes of visual impairment and DI in suprasellar region germinoma. Methods: We investigated eleven cases of single lesion suprasellar germinomas that were diagnosed and treated in our hospital. For each, a magnetic resonance imaging (MRI) was performed. Results: At the hospital visit, decreased visual acuity was found in 5/11 cases, while DI was found in all cases. The decreased visual acuity was improved in 4/5 cases by treatment, but DI improved in only 2/11 cases. In 10 cases, DI occurred earlier than visual impairment. As the initial symptom, visual impairment occurred earlier than DI in only one case and did not improve by treatment. In this case, a pituitary stalk of the normal thickness could be identified by MRI, and the optic nerve was swollen. In ten cases except this case, no significant enlargement of optic nerve was detected, and a swollen pituitary stalk was confirmed. Conclusions: In suprasellar germinomas, it is rare, but the optic nerve can significantly swell at onset, while the pituitary stalk may be intact. In such cases, visual impairment occurs earlier than DI, and visual impairment may not be improved.
文摘A 20 years old woman, admitted in our Centre at the 6th week of pregnancy, was affected by Central Diabetes Insipidus and since the age of 10 years old she assumed desmopressin at a dose of 30mg/nostril/day. She was primigravida, with normal past medical history. Fasting blood levels were normal;specific gravity of the urine: 1006;no glucosuria or proteinuria was present. Urinary and plasma osmolality were 245 and 287 mOsm/l;water intake about 2700mL/day;diuresis 2000mL/day. On the basis of the value of urine output and osmolality the dose of desmopressin was Increased at 40 mg/nostril/day. Patient was evaluated every month with fluid balance, urine volume, osmolality, and serum electrolytes. Daily dosage of desmopressin was 40mg/nostril for all the duration of pregnancy according to a trend of an adequate fluid and electrolytes balance and in absence of symptoms. Mean blood Pressure was 100/60 mmHg;coagulation, liver, renal function were normal. Fetal monitoring with periodic ultrasound detected a normal intrauterine growth. Patient had an uncomplicated labor of a healthy male baby at the 39th week. Because of an insufficient dilatation of the cervical canal caesarian section was chosen. Despite a previous Central Diabetes Insipidus may worsen in a pregnant with impaired reserve of Antidiuretic Hormone because of the changes in osmoregulatory system and increased levels of vasopressinasis in middle and late pregnancy, our patient required a slightly higher dose of desmopressin in the first trimester. Contrary to expectations the need of desmopressin did not increase during the weeks.
文摘The incidence of hyponatremia after spinal cord injury was reported to be between 25 and 80%.Hyponatremia can lead to a variety of clinical symptoms,from mild to severe and even life-threatening.Hyponatremia is often associated with diabetes insipidus,which refers to insufficient arginine vasopressin(AVP)secretion or defective renal response to AVP,with clinical manifestations of syndromes such as hypoosmolality,polydipsia,and polydipsia.Recent mechanistic studies on hyponatremia and diabetes insipidus after acute spinal cord injury have been performed in isolation,without integrating the above two symptoms into different pathological manifestations that occur in the same injury state and without considering the acute spinal cord injury patient’s condition as a whole.The therapeutic principles of CSWS and SIADH are in opposition to one another.It is not easy to identify the mechanism of hyponatremia in clinical practice,which makes selecting the treatment difficult.According to the existing theories,treatments for hyponatremia and diabetes insipidus together are contraindicated,whether the mechanism of hyponatremia is thought to be CSWS or SIADH.In this paper,we review the mechanism of these two pathological manifestations and suggest that our current understanding of the mechanisms of hyponatremia and diabetes insipidus after high acute cervical SCI is insufficient,and it is likely that there are other undetected pathogenetic mechanisms.
文摘Idiopathetic central diabetes insipidus (CDI) is a heterogeneous hypothalamus-pituitary disease due to the absence or deficiency of arginine vasopressin (AVP).
文摘Langerhans cell histiocytosis(LCH)is an idiopathic group of reactive proliferative diseases linked to aberrant immunity,pathologically characterized by clonal proliferation of Langerhans cells.LCH rarely involves the thymus.We report a case of thymic LCH with diabetes insipidus as the first presentation,without evidence of myasthenia gravis and without evidenced involvement of the skin,liver,spleen,bones,lungs and superficial lymph nodes.This present case may have important clinical implications.In screening for LCH lesions,attention should be attached to rarely involved sites in addition to commonly involved organs.Follow-up and imageological examination are very important to a final diagnosis.
文摘Background As an X-linked recessive way, arginine vasopressin receptor 2(AVPR2) gene mutation resulted in a hereditary disease — congenital nephrogenic diabetes insipidus(CNDI). We found a suspect clinical CNDI pedigree. In order to identify the genetic etiology, we performed the genetic analysis. Methods The clinical features of the proband and his family members were recorded. The laboratory tests and imaging inspections were analyzed. The water deprivation and pituitrin loading test were performed in the proband and his brother. The genomic DNA of all the members of the pedigree was extracted and then PCR amplification on AVPR2 gene was carried out. Sequencing in both directions was performed to identify mutation on AVPR2 gene. Results Both the proband and his brother were diagnosed as CNDI, meanwhile the other members of this pedigree were normal. No severe biochemical abnormality was found in the two CNDI patients. Both the patients had moderate urinary retention, severe megaloureter and hydronephrosis, and mild renal insufficiency. Two mutations of AVPR2 gene were discovered in the 3rd exon in the patients, a silent mutation L309 L and a nonsense mutation R337 X. The AVPR2 gene R337 X mutation was co-segregated with CNDI. R337 X mutation was not a reported mutation in the mainland of China.Conclusion The AVPR2 gene R337 X mutation was also a genetic etiology of CNDI patients in the mainland of China.
基金Supported by Hainan Academician Innovation Platform Fund,and the Hainan Province Clinical Medical Center.
文摘BACKGROUND Langerhans cell histiocytosis(LCH)is characterized by diabetes insipidus and is an uncommon occurrence.Pathological biopsies still have a certain degree of diagnostic probability.We present a case in which LCH initially affected the pituitary gland.This resulted in a misdiagnosis of chronic inflammation upon pathological examination.CASE SUMMARY A 25-year-old female exhibited symptoms of diabetes insipidus.Magnetic resonance imaging revealed an enhanced foci in the pituitary gland.After surgical resection of the pituitary lesion,the pathological diagnosis was chronic inflam-mation.However,the patient later experienced bone destruction in the skull and lower limb bones.After the lower limb bone lesion was compared with the initial pituitary lesion,the final diagnosis was modified to LCH.The patient was treated with multiple chemotherapy courses.However,the patient’s condition gradually worsened,and she eventually passed away at home.CONCLUSION LCH should be considered when patients exhibit diabetes insipidus and absence of high signal intensity in the pituitary gland on sagittal T1-weighted image and abnormal enhancement in the pituitary region.
基金supported by a grant from the Science and Technology Bureau of Shenzhen (Shenzhen Pro-ject of Science and Technology in 2010), No. 201001003
文摘Electric signals from a chest skin electrode can be conducted to the heart and activate contraction. In the present study, normal and diabetic rabbits were stimulated by skin electrode on the abnormal bladder projection area using three levels of exporting voltage (5.84 V, 8.00 V, and 11.00 V). Results demonstrated significantly attenuated electric signals from both groups, in particular the diabetes group. The skin electrode signals were conducted to the bladders, and all vesical signals increased according to strength of stimulating signals from the skin electrode, However, vesical signals from diabetic rabbits were less than those from normal rabbits at the same stimulating strength of exporting voltage. Vesical pressures from the two groups increased along with increased vesical signals, but vesical pressure was less those from diabetic rabbits than in normal rabbits (basic status and different stimulating levels). Linear correlation analysis showed a significantly positive correlation between vesical pressure and signal. These results demonstrated that electric signals from skin electrodes resulted in increased vesical pressure, and vesical pressure increased along with stimulation strength.