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Transient D-Penicillamine-Induced Nephrogenic Diabetes Insipidus during Treatment of a Patient with Cystinuria —D-Penicillamine-Induced Nephrogenic Diabetes Insipidus
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作者 Kamel El-Reshaid Shaikha Al-Bader 《Open Journal of Nephrology》 2023年第4期378-384,共7页
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
关键词 diabetes insipidus D-PENICILLAMINE CYSTINURIA GENETIC Side Effect
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Etiological Spectrum with Diagnosis and Prognosis of Central Diabetes Insipidus needs Long Term Followup:A Single Centre Experience
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作者 Dipti Sarma Manoj Gedam 《Journal of Endocrinology Research》 2020年第1期15-19,共5页
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
关键词 Central diabetes insipidus VASOPRESSIN Idiopathic diabetes insipidus Organic diabetes insipidus
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Mutation Analysis of AVPR2 and AQP2 Gene in Chinese Patients with Congenital Nephrogenic Diabetes Insipidus 被引量:6
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作者 WANG Ying LI Hong-jun +5 位作者 YU Zhen-xiang BAO Yong-li WU Yin YU Chun-lei MENG Xiang-ying LI Yu-xin 《Chemical Research in Chinese Universities》 SCIE CAS CSCD 2008年第3期312-315,共4页
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
关键词 Nephrogenic diabetes insipidus Gene mutation AQP2 A VPR2
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Diabetes insipidus with impaired vision caused by germinoma and perioptic meningeal seeding:A case report
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作者 Na Yang Hui-Juan Zhu +4 位作者 Yong Yao Li-Yun He Yu-Xiu Li Hui You Hua-Bing Zhang 《World Journal of Clinical Cases》 SCIE 2021年第8期1976-1982,共7页
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
关键词 GERMINOMA Visual acuity decrease Central diabetes insipidus Perioptic meningeal seeding Intracranial tumor Case report
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Congenital nephrogenic diabetes insipidus due to the mutation in AVPR2(c.541C>T)in a neonate:A case report
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作者 Fa-Tao Lin Jing Li +2 位作者 Bang-Li Xu Xiu-Xiu Yang Fang Wang 《World Journal of Clinical Cases》 SCIE 2020年第24期6418-6424,共7页
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
关键词 NEONATE Congenital nephrogenic diabetes insipidus AVPR2 gene Gene mutation Magnetic resonance imaging Case report
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Congenital nephrogenic diabetes insipidus arginine vasopressin receptor 2 gene mutation at new site:A case report
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作者 Lu-Lu Yang Yan Xu +3 位作者 Jian-Li Qiu Qian-Yi Zhao Man-Man Li Hui Shi 《World Journal of Clinical Cases》 SCIE 2022年第36期13443-13450,共8页
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
关键词 Congenital nephrogenic diabetes insipidus Arginine vasopressin receptor 2 gene mutation New site DIARRHEA Case report
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Management of a Parturient with Preeclampsia and HELLP Syndrome Complicated by Gestational Diabetes Insipidus
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作者 Kalpana Tyagaraj Alexandra Mazur +1 位作者 Agnes Miller Dennis Feierman 《Open Journal of Anesthesiology》 2016年第10期175-180,共7页
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
关键词 Gestational diabetes insipidus Severe Preeclampsia HELLP Syndrome
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Prolonged coexistent central diabetes insipidus and cerebral salt wasting syndrome following neurosurgery 被引量:1
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作者 D. López de Lara B. Joyanes +3 位作者 A. Llaneza O. Pérez B. Llorente I. Runkle 《Open Journal of Pediatrics》 2013年第2期74-77,共4页
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
关键词 ELECTROLYTE DISORDER diabetes insipidus CEREBRAL Salt WASTING Syndrome NEUROSURGERY
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Outcome of Vision Impairment and Diabetes Insipidus in Suprasellar Region Germinoma
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作者 Satoshi Utsuki Hidehiro Oka +3 位作者 Yoshiteru Miyajima Chihiro Kijima Kiyotaka Fujii Shinichi Kan 《International Journal of Clinical Medicine》 2011年第2期82-85,共4页
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
关键词 diabetes insipidus Neurohypophyseal GERMINOMA OPTIC NERVE GERMINOMA VISUAL Function
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A Case of Central Diabetes Insipidus: Evaluation in Pregnancy
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作者 Patrizia Gargiulo Nicoletta Mecca +1 位作者 Valeria Mercuri Tania D’Amico 《International Journal of Clinical Medicine》 2011年第3期278-280,共3页
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
关键词 diabetes insipidus PREGNANCY DESMOPRESSIN
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Mechanisms of hyponatremia and diabetes insipidus after acute spinal cord injury:a critical review
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作者 Lianhua Li Yanhui Guo +2 位作者 Chen Chen Zhonghe Wang Zhi Liu 《Chinese Neurosurgical Journal》 CAS CSCD 2024年第1期42-47,共6页
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
关键词 MECHANISM HYPONATREMIA diabetes insipidus Spinal cord injury
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Caution on diagnosis of idiopathetic central diabetes insipidus
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作者 WANG Xian-ling WANG Ying-qian MU Yi-ming 《Chinese Medical Journal》 SCIE CAS CSCD 2012年第10期1683-1685,共3页
Idiopathetic central diabetes insipidus (CDI) is a heterogeneous hypothalamus-pituitary disease due to the absence or deficiency of arginine vasopressin (AVP).
关键词 central diabetes insipidus GERMINOMA autoimmune hypophysitis pituitary metastase
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A case of thymic Langerhans cell histiocytosis with diabetes insipidus as the first presentation
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作者 Xiaoyan Chen Xiaochun Huang +3 位作者 Yuan Qiu Hanzhang Chen Yingyu Fu Xinchun Li 《Frontiers of Medicine》 SCIE CSCD 2013年第1期143-146,共4页
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
关键词 diabetes insipidus THYMUS Langerhans cell histiocytosis
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Genetic analysis of a congenital nephrogenic diabetes insipiduspedigree 被引量:1
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《Chinese Medical Journal》 SCIE CAS CSCD 2014年第6期1089-1092,共4页
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
关键词 diabetes insipidus nephrogeic RECEPTORS VASOPRESSIN gene MUTATION
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Multisystemic recurrent Langerhans cell histiocytosis misdiagnosed with chronic inflammation at the first diagnosis:A case report
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作者 Zhan-Rong Zhang Feng Chen Hui-Juan Chen 《World Journal of Radiology》 2024年第6期232-240,共9页
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
关键词 Langerhans cell histiocytosis Pituitary gland diabetes insipidus MULTI-SYSTEM MISDIAGNOSIS Magnetic resonance imaging Case report
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血小板与淋巴细胞比值对糖尿病神经源性膀胱的诊断价值
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作者 方晓燕 曾炎河 +3 位作者 林小英 林正坤 何素玲 阮兢 《武警医学》 CAS 2024年第6期493-496,501,共5页
目的分析血小板与淋巴细胞比值(PLR),以及中性粒细胞与淋巴细胞比值(NLR)对糖尿病神经源性膀胱的诊断价值。方法回顾性分析2019-01至2022-12在第909医院诊断为糖尿病神经源性膀胱138例患者和单纯2型糖尿病患者307例临床资料。采用logis... 目的分析血小板与淋巴细胞比值(PLR),以及中性粒细胞与淋巴细胞比值(NLR)对糖尿病神经源性膀胱的诊断价值。方法回顾性分析2019-01至2022-12在第909医院诊断为糖尿病神经源性膀胱138例患者和单纯2型糖尿病患者307例临床资料。采用logistic回归分析糖尿病神经源性膀胱发生的独立危险因素。使用受试者工作特征曲线(ROC)分析危险因素诊断糖尿病神经源性膀胱效能。结果与单纯糖尿病组相比,糖尿病神经源性膀胱组的女性比例高、年龄大、糖尿病史时间长,合并有糖尿病肾病、动脉粥样硬化比例均高,空腹血糖水平、PLR、NLR、血尿素氮水平高;而BMI、吸烟史、饮酒史比例红细胞、血红蛋白水平、总胆红素、直接胆红素、间接胆红素、白蛋白、尿酸水平低(P<0.05)。糖尿病史时间长[OR=1.127,95%CI(1.037~1.223),P=0.003]、PLR升高[OR=1.408,95%CI(1.130~1.753),P=0.001]是糖尿病神经源性膀胱发生独立危险因素,总胆红素[OR=0.881,95%CI(0.792~0.979),P=0.021]和血红蛋白[OR=0.956,95%CI(0.924~0.988),P=0.007]降低是其保护因素。ROC曲线分析示,PLR的曲线下面积最大为0.897,最佳诊断切点为101.19,此时敏感度和特异度分别为83.3%和76.6%。结论糖尿病神经源性膀胱患者的PLR、NLR值较单纯糖尿病患者更高。PLR对糖尿病人群中发生神经源性膀胱具有一定诊断价值。 展开更多
关键词 糖尿病 神经源性膀胱 炎症 血小板 淋巴细胞
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血管活性肠肽水平在糖尿病神经源性膀胱患者中的表达意义
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作者 吴旭 柯帆 《中国当代医药》 CAS 2024年第7期83-86,共4页
目的探讨血管活性肠肽(VIP)水平在糖尿病神经源性膀胱(DNB)患者中的表达意义。方法选取2021年1月至2023年5月九江市第一人民医院内分泌科收治的60例2型糖尿病(T2DM)患者作为研究对象,按照是否伴有DNB分为研究1组和研究2组,其中27例合并... 目的探讨血管活性肠肽(VIP)水平在糖尿病神经源性膀胱(DNB)患者中的表达意义。方法选取2021年1月至2023年5月九江市第一人民医院内分泌科收治的60例2型糖尿病(T2DM)患者作为研究对象,按照是否伴有DNB分为研究1组和研究2组,其中27例合并DNB患者设为研究1组,其余33例单纯糖尿病患者设为研究2组,选取同期在医院行健康体检的30例健康者设为对照组。抽取所有受试者空腹抽取10 ml肘静脉血,检测血糖[糖化血红蛋白(HbA1c)、空腹血糖(FPG)]、血脂[总胆固醇(TC)、三酰甘油(TG)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)]、VIP。比较三组患者血糖、血脂和VIP水平差异,分析血清VIP及血糖、血脂与T2DM患者DNB发生的相关性。结果单因素分析结果显示,研究1组、研究2组HbA1c、FPG、VIP检测值均高于对照组,且研究1组各指标检测值高于研究2组,差异有统计学意义(P<0.05)。研究1组、研究2组TG、TC、LDL-C检测值均高于对照组,且研究1组各指标检测值高于研究2组,差异有统计学意义(P<0.05);三组患者HDL-C检测值比较,差异无统计学意义(P>0.05);HbA1c、FPG、VIP、TG、TC、LDL-C水平与T2DM患者DNB发生呈正相关(r=0.621、0.614、0.337、0.353、0.459、0.265,P<0.05)。结论DNB患者血清VIP明显升高,可作为早期筛查DNB的有效指标。 展开更多
关键词 糖尿病神经源性膀胱 血管活性肠肽 血糖 血脂
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伴上尿路扩张的尿崩症患者的诊断和治疗:一项单中心临床研究
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作者 王学胜 周忠涵 +2 位作者 李兴 李勋华 廖利民 《现代泌尿外科杂志》 2024年第1期12-17,64,共7页
目的通过影像尿动力学检查(VUDS)和全尿路功能障碍(AUTD)分级系统描述伴上尿路扩张(UUTD)的尿崩症(DI)患者的全尿路特征,归纳总结伴UUTD的DI患者的诊断和治疗经验。方法回顾性分析中国康复研究中心于2010年1月—2020年1月收治的28例伴U... 目的通过影像尿动力学检查(VUDS)和全尿路功能障碍(AUTD)分级系统描述伴上尿路扩张(UUTD)的尿崩症(DI)患者的全尿路特征,归纳总结伴UUTD的DI患者的诊断和治疗经验。方法回顾性分析中国康复研究中心于2010年1月—2020年1月收治的28例伴UUTD的DI患者的临床资料,采用UUTD和AUTD分级系统评估患者的上尿路特征。总结分析所有患者的实验室检查、VUDS、UUTD、神经电生理检查、治疗方案和随访结果等临床资料。结果28例伴UUTD患者中DI患者21例(75.0%),DI合并神经源性膀胱(NB)患者7例(25.0%)。除2例DI合并NB患者因膀胱容量小、顺应性差以及肾功能不全行肠道膀胱扩大成形术外,其余26例(92.9%)患者通过药物治疗联合膀胱颈切开等个体化治疗以及相应的膀胱管理(包括间歇性导尿、留置尿管和规律排尿)取得了满意的治疗效果。13例(46.4%)肾功能异常患者的血肌酐水平从(269.8±105.7)μmol/L下降到(164.4±90.2)μmol/L。28例患者的48条扩张输尿管的上尿路积水扩张分级明显改善,患者的上尿路积水扩张分级中位数由3级降至2级。结论膀胱容量增加、膀胱小梁形成和感觉减退或消失是伴有UUTD的DI患者的共同特征,个体化药物治疗结合合理的膀胱管理可改善DI患者的上尿路扩张程度和肾功能。 展开更多
关键词 尿崩症 膀胱扩张 上尿路扩张 神经源性膀胱 个体化治疗 诊断流程
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印堂及关元透刺法通调任督治疗糖尿病神经源性膀胱的临床观察
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作者 董思琪 马晶鑫 +5 位作者 曹金艳 田真 李静 肖扬 关伟 李元宾 《中医临床研究》 2024年第6期46-49,共4页
目的:观察印堂及关元透刺法通调任督治疗糖尿病神经源性膀胱的临床疗效。方法:选取2018年6月―2022年4月于太原市中心医院内分泌科门诊及住院部诊断为糖尿病神经源性膀胱的21例患者。给予患者常规治疗的基础上,配合印堂及关元透刺法通... 目的:观察印堂及关元透刺法通调任督治疗糖尿病神经源性膀胱的临床疗效。方法:选取2018年6月―2022年4月于太原市中心医院内分泌科门诊及住院部诊断为糖尿病神经源性膀胱的21例患者。给予患者常规治疗的基础上,配合印堂及关元透刺法通调任督的针刺治疗,具体的取穴包括印堂穴、关元穴、中极穴及双侧太溪穴。7 d为一个疗程,患者平均治疗1.48个疗程。分别于治疗前后观察患者的排尿后膀胱残余尿量、日排尿次数和中医证候积分,并观察治疗的总有效率和不良反应情况。结果:与治疗前比较,患者排尿后的膀胱残余尿量显著减少,日排尿次数显著减少,中医证候积分显著减少,上述指标在治疗前后的差异均具有统计学意义(P <0.05);在21例患者中显效17例,有效3例,无效1例,总有效率为95.24%(20/21);所有的患者在治疗过程中均未见不良反应。结论:基础治疗配合印堂及关元透刺法通调任督的方案对于糖尿病神经源性膀胱具有良好的临床效果,从膀胱残余尿量、日排尿次数、中医证候积分、总有效率及不良反应的发生情况中,可以反映出患者的临床症状得到有效改善。针刺操作难度低,效优价廉,符合绿色健康的治疗理念,值得在糖尿病神经源性膀胱的临床治疗实践中推广。 展开更多
关键词 癃闭 糖尿病神经源性膀胱 针刺 临床观察
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Skin electrodes transduced signals to the bladder resulting in ameliorated hypomotility in a rabbit model of diabetes
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作者 Xinmin Wang Qirui Fu +4 位作者 Qingmei Zhang Ping Xu Lin Cao Meng Xue Wei Wang 《Neural Regeneration Research》 SCIE CAS CSCD 2012年第4期308-312,共5页
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
关键词 diabetes mellitus peripheral neurogenic bladder vesical pressure vesical stimulation
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