Phan Van T T, Bloomer Zachary W, Phan Vien T X, Shakir Mohamed K M, Hoang Thanh D
Division of Endocrinology, Department of Medicine, Walter Reed National Military Medical Center, Bethesda, Maryland.
Division of Endocrinology, Department of Medicine, Uniformed Services University of the Health Sciences, Bethesda, Maryland.
AACE Clin Case Rep. 2020 Nov 27;7(6):338-341. doi: 10.1016/j.aace.2020.11.031. eCollection 2021 Nov-Dec.
Diabetes insipidus (DI) can be classified into 2 types: central/neurogenic DI and nephrogenic DI. Most cases of central DI occur after brain surgery, trauma, tumor, or infection. Here we report a rare case of familial central DI due to a heterozygous gene mutation.
A case of familial neurogenic DI has been described with thorough clinical, laboratory, and genetic workup. PubMed and Google scholar databases were used for literature discussion.
A 22-year-old man presented with polyuria and polydipsia. He drank about 4 gallons of water everyday and urinated large volumes very frequently. His physical examination was unremarkable. After 2 hours of water-deprivation, his serum sodium level was 147 mmol/L, serum osmolality was 302 mOsm/kg with concurrent urine osmolality of 78 mOsm/kg, vasopressin level was <0.8 pg/mL, and copeptin level was <2.8 pmol/L, suggesting neurogenic DI. His brain magnetic resonance imaging revealed the absence of the posterior pituitary bright spot but a normal anterior pituitary gland. Genetic analysis revealed a nonfunctional heterozygous mutation in the gene. Further questioning revealed that his mother also had the disease and that he had been treated with desmopressin as a child; however, it was later self-stopped. The patient was reinitiated on desmopressin, which improved his symptoms.
Genetic mutations in the gene represent a very rare etiology of DI, and patients with DI respond well to desmopressin treatment.
尿崩症（DI）可分为两种类型：中枢性/神经源性尿崩症和肾源性尿崩症。大多数中枢性尿崩症病例发生在脑外科手术、创伤、肿瘤或感染之后。在此，我们报告一例因杂合基因突变导致的家族性中枢性尿崩症罕见病例。
描述了一例家族性神经源性尿崩症病例，并进行了全面的临床、实验室和基因检查。使用PubMed和谷歌学术数据库进行文献讨论。
一名22岁男性出现多尿和烦渴症状。他每天饮用约4加仑水，排尿非常频繁且尿量很大。体格检查无异常。禁水2小时后，其血清钠水平为147 mmol/L，血清渗透压为302 mOsm/kg，同时尿渗透压为78 mOsm/kg，血管加压素水平<0.8 pg/mL，copeptin水平<2.8 pmol/L，提示神经源性尿崩症。他的脑部磁共振成像显示垂体后叶亮点缺失，但垂体前叶正常。基因分析显示该基因存在无功能的杂合突变。进一步询问得知他的母亲也患有此病，他小时候曾接受去氨加压素治疗，但后来自行停药。该患者重新开始使用去氨加压素治疗，症状得到改善。
该基因的基因突变是尿崩症非常罕见的病因，尿崩症患者对去氨加压素治疗反应良好。
