Cardiac arrest is one of the leading causes of death and represents maximal stress in humans. After restoration of spontaneous circulation, post-cardiac arrest syndrome is the predominant disorder in survivors. Beside...Cardiac arrest is one of the leading causes of death and represents maximal stress in humans. After restoration of spontaneous circulation, post-cardiac arrest syndrome is the predominant disorder in survivors. Besides the post-arrest brain injury, the post-resuscitation myocardial stunning, and the systemic ischemia/reperfusion response, this syndrome is characterized by adrenal insufficiency, a disorder that often remains undiagnosed. The pathophysiology of adrenal insufficiency has not been elucidated. We performed a comprehensive search of three medical databases in order to describe the major pathophysiological disturbances which are responsible for the occurrence of the disorder. Based on the available evidence, this article will help physicians to better evaluate and understand the hidden yet deadly post-cardiac arrest adrenal insufficiency.展开更多
BACKGROUND In bow hunter’s syndrome(BHS),also known as rotational vertebral artery(VA)syndrome,there is dynamic/rotational compression of the VA producing verte-brobasilar insufficiency.Most occurrences involve atlan...BACKGROUND In bow hunter’s syndrome(BHS),also known as rotational vertebral artery(VA)syndrome,there is dynamic/rotational compression of the VA producing verte-brobasilar insufficiency.Most occurrences involve atlantoaxial rather than mid-cervical VA compromise,the latter being rarely reported.Herein,we detail successful VA decompression at mid-cervical spine,given a departure from its usual course.CASE SUMMARY The patient,a 45-year-old man,presented to our hospital with occipital headache and vertigo.Computed tomography angiography showed anomalous C4 entry of right VA,with compression upon head rotation to that side.Thyroid cartilage and anterior tubercle of C5 transverse process were visibly at fault.We opted for sur-gery,using an anterior cervical approach to remove the anterior tubercle.Patient recovery was uneventful and brought resolution of all preoperative symptoms.CONCLUSION BHS is an important consideration where aberrant coursing of VA and neurologic symptoms coexist.展开更多
BACKGROUND Empty sella is an anatomical and radiological finding of the herniation of the subarachnoid space into the pituitary fossa leading to a flattened pituitary gland.Patients with empty sella may present with v...BACKGROUND Empty sella is an anatomical and radiological finding of the herniation of the subarachnoid space into the pituitary fossa leading to a flattened pituitary gland.Patients with empty sella may present with various symptoms,including headache due to intracranial hypertension and endocrine symptoms related to the specific pituitary hormones affected.Here,we report a female patient who developed persistent postoperative hypotension caused by subclinical empty sella syndrome after a simple surgery.CASE SUMMARY A 47-year-old woman underwent vocal cord polypectomy under general anesthesia with endotracheal intubation.She denied any medical history,and her vital signs were normal before the surgery.Anesthesia and surgery were uneventful.However,she developed dizziness,headache and persistent hypotension in the ward.Thus,intravenous dopamine was started to maintain normal blood pressure,which improved her symptoms.However,she remained dependent on dopamine for over 24 h without any obvious anesthesia-and surgery-related complications.An endocrine etiology was then suspected,and further examination showed a high prolactin level,a low normal adrenocorticotropic hormone level and a low cortisol level.Magnetic resonance imaging of the brain revealed an empty sella.Therefore,she was diagnosed with empty sella syndrome and secondary adrenal insufficiency.Her symptoms disappeared one week later after daily glucocorticoid supplement.CONCLUSION Endocrine etiologies such as pituitary and adrenal-related dysfunction should be considered in patients showing persistent postoperative hypotension when anesthesia-and surgery-related factors are excluded.展开更多
Johanson-Blizzard syndrome (JBS) is a rare genetic disorder characterized by multiple craniofacial abnormalities, intellectual disability, sensorineural hearing loss, pancreatic exocrine insufficiency, and involvement...Johanson-Blizzard syndrome (JBS) is a rare genetic disorder characterized by multiple craniofacial abnormalities, intellectual disability, sensorineural hearing loss, pancreatic exocrine insufficiency, and involvement of other organ systems to varying degrees. Patients with JBS may require surgical intervention to address the underlying phenotypic abnormalities. The many craniofacial abnormalities found in patients with JBS are a concern for the anesthesiologist. We present the case of an adult patient with JBS who is undergoing implantation of a leadless pacemaker. Considering the many cardiac and craniofacial abnormalities in these patients, the anesthesiologist should order diagnostic tests such as echocardiography to assess cardiac function, as well as be prepared to perform advanced airway techniques for difficult airways. The anesthetic provider should be aware of the varied phenotypic expression of JBS and should individualize the anesthetic plan to each patient. Prior medical literature on the anesthetic management of these patients is scarce and limited to pediatric patients. This is the first case report addressing anesthetic concerns in an adult patient with JBS.展开更多
Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition associated with exocrine pancreatic insufficiency,and is characterized by hypoplastic nasal alae,mental retardation,sensorineural hearing loss,s...Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition associated with exocrine pancreatic insufficiency,and is characterized by hypoplastic nasal alae,mental retardation,sensorineural hearing loss,short stature,scalp defects,dental abnormalities and abnormal hair patterns. Growth hormone deficiency,hypopituitarism,and impaired glucagon secretion response to insulin-induced hypoglycemia have been reported. Congenital heart defects have also been described in this condition. Mental retardation is typically moderate to severe in patients with JBS; however,normal intelligence can occur. In the pancreas,there is a selective defect of acinar tissue,whereas the islets of Langerhans and ducts are preserved. Diabetes has been reported in older children,suggesting the progressive nature of pancreatic disease. The molecular basis of JBS has recently been mapped to chromosome 15q15-q21 with identified mutations in the UBR1 gene. We report the case of a 7-year-old female with pancreatic insufficiency and mild phenotypic features,in whom the diagnosis of JBS was established using recently described molecular testing for the UBR1 gene.展开更多
Johanson-Blizzard syndrome(JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency,hypoplastic or aplastic nasal alae,cutis aplasia on the scalp,and other features including devel...Johanson-Blizzard syndrome(JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency,hypoplastic or aplastic nasal alae,cutis aplasia on the scalp,and other features including developmental delay,failure to thrive,hearing loss,mental retardation,hypothyroidism,dental abnormalities,and anomalies in cardiac and genitourinary systems.More than 60 cases of this syndrome have been reported to date.We describe the case of a male infant with typical symptoms of JBS.In addition,a new clinical feature which has not previously been documented,that is anemia requiring frequent blood transfusions and mild to moderate thrombocytopenia was observed.A molecular study was performed which revealed a novel homozygous UBR1 mutation.Possible explanations for this new association are discussed.展开更多
BACKGROUND Systemic lupus erythematosus(SLE)and antineutrophil cytoplasmic antibodyassociated vasculitis(AAV)are classically thought to cause renal impairment and small vessel vasculitis with different pathophysiologi...BACKGROUND Systemic lupus erythematosus(SLE)and antineutrophil cytoplasmic antibodyassociated vasculitis(AAV)are classically thought to cause renal impairment and small vessel vasculitis with different pathophysiologies.Their overlap constitutes a rare rheumatologic disease.To date,only dozens of such cases with biopsyproven glomerulonephritis have been reported worldwide typically in women of childbearing age.Here,we present a unique clinical case due to its rarity and individualized treatment of a Chinese man in his eighth decade of life.CASE SUMMARY A 77-year-old man was admitted to several hospitals for shortness of breath and received nonspecific treatments over the past 3 years.As his symptoms were not completely relieved,he visited our hospital for further treatment.Laboratory examinations revealed kidney dysfunction,severe anaemia,hypocomplementemia,glomerular proteinuria,and microscopic haematuria.Antinuclear antibodies,as well as anti-dsDNA antibodies,were positive.Computed tomography of the chest showed right pleural effusion.Renal biopsy was performed,and histology suggested crescentic glomerulonephritis,pauci-immune type.After treatment with plasmapheresis,glucocorticoid,and cyclophosphamide,the disease was in remission,and the patient remained in a stable condition for over 3 years post-hospital discharge.CONCLUSION Due to its complexity and rarity,SLE and AAV overlap syndrome is easily misdiagnosed.An accurate diagnosis and treatment at the earliest stage may significantly improve the condition and reduce irreversible organ injury.展开更多
Cardiorenal syndrome(CRS)type 1 is the development of acute kidney injury in patients with acute decompensated heart failure.CRS often results in prolonged hospitalization,a higher rate of rehospitalization,high morbi...Cardiorenal syndrome(CRS)type 1 is the development of acute kidney injury in patients with acute decompensated heart failure.CRS often results in prolonged hospitalization,a higher rate of rehospitalization,high morbidity,and high mortality.The pathophysiology of CRS is complex and involves hemodynamic changes,neurohormonal activation,hypothalamic-pituitary stress reaction,inflammation,and infection.However,there is limited evidence or guideline in managing CRS type 1,and the established therapeutic strategies mainly target the symptomatic relief of heart failure.This review will discuss the strategies in the management of CRS type 1.Six clinical studies have been included in this review that include different treatment strategies such as nesiritide,dopamine,levosimendan,tolvaptan,dobutamine,and ultrafiltration.Treatment strategies for CRS type 1 are derived based on the current literature.Early recognition and treatment of CRS can improve the outcomes of the patients significantly.展开更多
The purpose of this study was to assess factors associated with subjective sleep evaluation, chiefly excessive daytime sleepiness (EDS) in obstructive sleep apnea syndrome (OSAS) adult outpatients under continuous pos...The purpose of this study was to assess factors associated with subjective sleep evaluation, chiefly excessive daytime sleepiness (EDS) in obstructive sleep apnea syndrome (OSAS) adult outpatients under continuous positive airway pressure (CPAP) treatment. One thousand and forty-eight OSAS outpatients (mean age: 51.4% male: 90.5%) who were treated by CPAP were consecutively collected. Age, sex, CPAP compliance (CPAP usage as their device of nights with application-time of at least 4 hours per night objectively;%usage ≥ 4 h/d), and Japanese version of the Pittsburgh Sleep Quality Index (PSQI-J) of the patients showing EDS (Japanese version of the Epworth Sleepiness Scale;JESS ≥ 11) were compared cross-sectionally with those of the patients who did not show EDS (JESS < 11). Nineteen point two % of all patients showed EDS subjectively. Two hundred one patients were classified to an EDS(+) group and an 847 patients were classified to EDS(–) group. Age and global PSQI-J scores were significantly different between the two groups. Logistic regression showed that EDS was significantly associated with global PSQI-J scores, but not with age. Among PSQI-J components, overall sleep quality, duration of sleep, sleep disturbance, and day dysfunction due to sleepiness were significantly higher in the EDS(+) group. Especially, 19.4% of patient in the EDS(+) group reported actual sleep time during the past month to be less than 5 hours/day. Although functional relationship should be further evaluated, insufficient sleep is the main factor associated with EDS in the OSAS patients under CPAP treatment.展开更多
Sheehan’s Syndrome (SS) occurs as a result of ischemic pituitary necrosis due to severe post-partum hemorrhage. We report a 41-year-old woman with a history of severe postpartum hemorrhage 18 years prior to presentat...Sheehan’s Syndrome (SS) occurs as a result of ischemic pituitary necrosis due to severe post-partum hemorrhage. We report a 41-year-old woman with a history of severe postpartum hemorrhage 18 years prior to presentation. During this period of time, she experienced severe fatigue. Three months prior to being admitted to our hospital, the patient started to notice alopecia, generalized edema and cognitive impairment. After proper investigation, laboratory tests and clinical findings indicated panhypopituitarism. In addition to neuroimaging and past medical history, SS was diagnosed and treatment started. We emphasize the importance of thorough investigation, further diagnosis and management of this condition (especially in third world countries), since SS is a neurological and endocrinological emergency and potentially life threatening.展开更多
Background Sphingosine-1-phosphate lyase insufficiency syndrome(SPLIS)or nephrotic syndrome type-14 is caused by biallelic mutations in SGPL1.Here,we conducted a systematic review to delineate the characteristics of S...Background Sphingosine-1-phosphate lyase insufficiency syndrome(SPLIS)or nephrotic syndrome type-14 is caused by biallelic mutations in SGPL1.Here,we conducted a systematic review to delineate the characteristics of SPLIS patients.Methods A literature search was performed in PubMed,Web of Science,and Scopus databases,and eligible studies were included.For all patients,demographic,clinical,laboratory,and molecular data were collected and analyzed.Results Fifty-five SPLIS patients(54.9%male,45.1%female)were identified in 19 articles.Parental consanguinity and positive family history were reported in 70.9%and 52.7%of patients,respectively.Most patients(54.9%)primarily manifested within the first year of life,nearly half of whom survived,while all patients with a prenatal diagnosis of SPLIS(27.5%)died at a median[interquartile(IQR)]age of 2(1.4–5.3)months(P=0.003).The most prevalent clinical feature was endocrinopathies,including primary adrenal insufficiency(PAI)(71.2%)and hypothyroidism(32.7%).Kidney disorders(42,80.8%)were mainly in the form of steroid-resistant nephrotic syndrome(SRNS)and progressed to end-stage kidney disease(ESKD)in 19(36.5%)patients at a median(IQR)age of 6(1.4–42.6)months.Among 30 different mutations in SGPL1,the most common was c.665G>A(p.Arg222Gln)in 11(20%)patients.Twenty-six(49.1%)patients with available outcome were deceased at a median(IQR)age of 5(1.5–30.5)months,mostly following ESKD(23%)or sepsis/septic shock(23%).Conclusion In patients with PAI and/or SRNS,SGPL1 should be added to diagnostic genetic panels,which can provide an earlier diagnosis of SPLIS and prevention of ESKD and other life-threatening complications.展开更多
文摘Cardiac arrest is one of the leading causes of death and represents maximal stress in humans. After restoration of spontaneous circulation, post-cardiac arrest syndrome is the predominant disorder in survivors. Besides the post-arrest brain injury, the post-resuscitation myocardial stunning, and the systemic ischemia/reperfusion response, this syndrome is characterized by adrenal insufficiency, a disorder that often remains undiagnosed. The pathophysiology of adrenal insufficiency has not been elucidated. We performed a comprehensive search of three medical databases in order to describe the major pathophysiological disturbances which are responsible for the occurrence of the disorder. Based on the available evidence, this article will help physicians to better evaluate and understand the hidden yet deadly post-cardiac arrest adrenal insufficiency.
文摘BACKGROUND In bow hunter’s syndrome(BHS),also known as rotational vertebral artery(VA)syndrome,there is dynamic/rotational compression of the VA producing verte-brobasilar insufficiency.Most occurrences involve atlantoaxial rather than mid-cervical VA compromise,the latter being rarely reported.Herein,we detail successful VA decompression at mid-cervical spine,given a departure from its usual course.CASE SUMMARY The patient,a 45-year-old man,presented to our hospital with occipital headache and vertigo.Computed tomography angiography showed anomalous C4 entry of right VA,with compression upon head rotation to that side.Thyroid cartilage and anterior tubercle of C5 transverse process were visibly at fault.We opted for sur-gery,using an anterior cervical approach to remove the anterior tubercle.Patient recovery was uneventful and brought resolution of all preoperative symptoms.CONCLUSION BHS is an important consideration where aberrant coursing of VA and neurologic symptoms coexist.
文摘BACKGROUND Empty sella is an anatomical and radiological finding of the herniation of the subarachnoid space into the pituitary fossa leading to a flattened pituitary gland.Patients with empty sella may present with various symptoms,including headache due to intracranial hypertension and endocrine symptoms related to the specific pituitary hormones affected.Here,we report a female patient who developed persistent postoperative hypotension caused by subclinical empty sella syndrome after a simple surgery.CASE SUMMARY A 47-year-old woman underwent vocal cord polypectomy under general anesthesia with endotracheal intubation.She denied any medical history,and her vital signs were normal before the surgery.Anesthesia and surgery were uneventful.However,she developed dizziness,headache and persistent hypotension in the ward.Thus,intravenous dopamine was started to maintain normal blood pressure,which improved her symptoms.However,she remained dependent on dopamine for over 24 h without any obvious anesthesia-and surgery-related complications.An endocrine etiology was then suspected,and further examination showed a high prolactin level,a low normal adrenocorticotropic hormone level and a low cortisol level.Magnetic resonance imaging of the brain revealed an empty sella.Therefore,she was diagnosed with empty sella syndrome and secondary adrenal insufficiency.Her symptoms disappeared one week later after daily glucocorticoid supplement.CONCLUSION Endocrine etiologies such as pituitary and adrenal-related dysfunction should be considered in patients showing persistent postoperative hypotension when anesthesia-and surgery-related factors are excluded.
文摘Johanson-Blizzard syndrome (JBS) is a rare genetic disorder characterized by multiple craniofacial abnormalities, intellectual disability, sensorineural hearing loss, pancreatic exocrine insufficiency, and involvement of other organ systems to varying degrees. Patients with JBS may require surgical intervention to address the underlying phenotypic abnormalities. The many craniofacial abnormalities found in patients with JBS are a concern for the anesthesiologist. We present the case of an adult patient with JBS who is undergoing implantation of a leadless pacemaker. Considering the many cardiac and craniofacial abnormalities in these patients, the anesthesiologist should order diagnostic tests such as echocardiography to assess cardiac function, as well as be prepared to perform advanced airway techniques for difficult airways. The anesthetic provider should be aware of the varied phenotypic expression of JBS and should individualize the anesthetic plan to each patient. Prior medical literature on the anesthetic management of these patients is scarce and limited to pediatric patients. This is the first case report addressing anesthetic concerns in an adult patient with JBS.
基金Supported by Grant from the German Research Foundation (DFG) to MZ
文摘Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition associated with exocrine pancreatic insufficiency,and is characterized by hypoplastic nasal alae,mental retardation,sensorineural hearing loss,short stature,scalp defects,dental abnormalities and abnormal hair patterns. Growth hormone deficiency,hypopituitarism,and impaired glucagon secretion response to insulin-induced hypoglycemia have been reported. Congenital heart defects have also been described in this condition. Mental retardation is typically moderate to severe in patients with JBS; however,normal intelligence can occur. In the pancreas,there is a selective defect of acinar tissue,whereas the islets of Langerhans and ducts are preserved. Diabetes has been reported in older children,suggesting the progressive nature of pancreatic disease. The molecular basis of JBS has recently been mapped to chromosome 15q15-q21 with identified mutations in the UBR1 gene. We report the case of a 7-year-old female with pancreatic insufficiency and mild phenotypic features,in whom the diagnosis of JBS was established using recently described molecular testing for the UBR1 gene.
文摘Johanson-Blizzard syndrome(JBS) is a rare autosomal recessive disease characterized by exocrine pancreatic insufficiency,hypoplastic or aplastic nasal alae,cutis aplasia on the scalp,and other features including developmental delay,failure to thrive,hearing loss,mental retardation,hypothyroidism,dental abnormalities,and anomalies in cardiac and genitourinary systems.More than 60 cases of this syndrome have been reported to date.We describe the case of a male infant with typical symptoms of JBS.In addition,a new clinical feature which has not previously been documented,that is anemia requiring frequent blood transfusions and mild to moderate thrombocytopenia was observed.A molecular study was performed which revealed a novel homozygous UBR1 mutation.Possible explanations for this new association are discussed.
文摘BACKGROUND Systemic lupus erythematosus(SLE)and antineutrophil cytoplasmic antibodyassociated vasculitis(AAV)are classically thought to cause renal impairment and small vessel vasculitis with different pathophysiologies.Their overlap constitutes a rare rheumatologic disease.To date,only dozens of such cases with biopsyproven glomerulonephritis have been reported worldwide typically in women of childbearing age.Here,we present a unique clinical case due to its rarity and individualized treatment of a Chinese man in his eighth decade of life.CASE SUMMARY A 77-year-old man was admitted to several hospitals for shortness of breath and received nonspecific treatments over the past 3 years.As his symptoms were not completely relieved,he visited our hospital for further treatment.Laboratory examinations revealed kidney dysfunction,severe anaemia,hypocomplementemia,glomerular proteinuria,and microscopic haematuria.Antinuclear antibodies,as well as anti-dsDNA antibodies,were positive.Computed tomography of the chest showed right pleural effusion.Renal biopsy was performed,and histology suggested crescentic glomerulonephritis,pauci-immune type.After treatment with plasmapheresis,glucocorticoid,and cyclophosphamide,the disease was in remission,and the patient remained in a stable condition for over 3 years post-hospital discharge.CONCLUSION Due to its complexity and rarity,SLE and AAV overlap syndrome is easily misdiagnosed.An accurate diagnosis and treatment at the earliest stage may significantly improve the condition and reduce irreversible organ injury.
文摘Cardiorenal syndrome(CRS)type 1 is the development of acute kidney injury in patients with acute decompensated heart failure.CRS often results in prolonged hospitalization,a higher rate of rehospitalization,high morbidity,and high mortality.The pathophysiology of CRS is complex and involves hemodynamic changes,neurohormonal activation,hypothalamic-pituitary stress reaction,inflammation,and infection.However,there is limited evidence or guideline in managing CRS type 1,and the established therapeutic strategies mainly target the symptomatic relief of heart failure.This review will discuss the strategies in the management of CRS type 1.Six clinical studies have been included in this review that include different treatment strategies such as nesiritide,dopamine,levosimendan,tolvaptan,dobutamine,and ultrafiltration.Treatment strategies for CRS type 1 are derived based on the current literature.Early recognition and treatment of CRS can improve the outcomes of the patients significantly.
文摘The purpose of this study was to assess factors associated with subjective sleep evaluation, chiefly excessive daytime sleepiness (EDS) in obstructive sleep apnea syndrome (OSAS) adult outpatients under continuous positive airway pressure (CPAP) treatment. One thousand and forty-eight OSAS outpatients (mean age: 51.4% male: 90.5%) who were treated by CPAP were consecutively collected. Age, sex, CPAP compliance (CPAP usage as their device of nights with application-time of at least 4 hours per night objectively;%usage ≥ 4 h/d), and Japanese version of the Pittsburgh Sleep Quality Index (PSQI-J) of the patients showing EDS (Japanese version of the Epworth Sleepiness Scale;JESS ≥ 11) were compared cross-sectionally with those of the patients who did not show EDS (JESS < 11). Nineteen point two % of all patients showed EDS subjectively. Two hundred one patients were classified to an EDS(+) group and an 847 patients were classified to EDS(–) group. Age and global PSQI-J scores were significantly different between the two groups. Logistic regression showed that EDS was significantly associated with global PSQI-J scores, but not with age. Among PSQI-J components, overall sleep quality, duration of sleep, sleep disturbance, and day dysfunction due to sleepiness were significantly higher in the EDS(+) group. Especially, 19.4% of patient in the EDS(+) group reported actual sleep time during the past month to be less than 5 hours/day. Although functional relationship should be further evaluated, insufficient sleep is the main factor associated with EDS in the OSAS patients under CPAP treatment.
文摘Sheehan’s Syndrome (SS) occurs as a result of ischemic pituitary necrosis due to severe post-partum hemorrhage. We report a 41-year-old woman with a history of severe postpartum hemorrhage 18 years prior to presentation. During this period of time, she experienced severe fatigue. Three months prior to being admitted to our hospital, the patient started to notice alopecia, generalized edema and cognitive impairment. After proper investigation, laboratory tests and clinical findings indicated panhypopituitarism. In addition to neuroimaging and past medical history, SS was diagnosed and treatment started. We emphasize the importance of thorough investigation, further diagnosis and management of this condition (especially in third world countries), since SS is a neurological and endocrinological emergency and potentially life threatening.
文摘Background Sphingosine-1-phosphate lyase insufficiency syndrome(SPLIS)or nephrotic syndrome type-14 is caused by biallelic mutations in SGPL1.Here,we conducted a systematic review to delineate the characteristics of SPLIS patients.Methods A literature search was performed in PubMed,Web of Science,and Scopus databases,and eligible studies were included.For all patients,demographic,clinical,laboratory,and molecular data were collected and analyzed.Results Fifty-five SPLIS patients(54.9%male,45.1%female)were identified in 19 articles.Parental consanguinity and positive family history were reported in 70.9%and 52.7%of patients,respectively.Most patients(54.9%)primarily manifested within the first year of life,nearly half of whom survived,while all patients with a prenatal diagnosis of SPLIS(27.5%)died at a median[interquartile(IQR)]age of 2(1.4–5.3)months(P=0.003).The most prevalent clinical feature was endocrinopathies,including primary adrenal insufficiency(PAI)(71.2%)and hypothyroidism(32.7%).Kidney disorders(42,80.8%)were mainly in the form of steroid-resistant nephrotic syndrome(SRNS)and progressed to end-stage kidney disease(ESKD)in 19(36.5%)patients at a median(IQR)age of 6(1.4–42.6)months.Among 30 different mutations in SGPL1,the most common was c.665G>A(p.Arg222Gln)in 11(20%)patients.Twenty-six(49.1%)patients with available outcome were deceased at a median(IQR)age of 5(1.5–30.5)months,mostly following ESKD(23%)or sepsis/septic shock(23%).Conclusion In patients with PAI and/or SRNS,SGPL1 should be added to diagnostic genetic panels,which can provide an earlier diagnosis of SPLIS and prevention of ESKD and other life-threatening complications.
