A Rare Case of Familial Neurogenic Diabetes Insipidus in a 22-Year-Old Man

• Published in: AACE clinical case reports 2021, Vol.7 (6), p.338-341
• Main Authors: Phan, Van T T, Bloomer, Zachary W, Phan, Vien T X, Shakir, Mohamed K M, Hoang, Thanh D
• Format: Report
• Language: English
• ISSN: 2376-0605
• DOI: 10.1016/j.aace.2020.11.031

OBJECTIVEDiabetes 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 AVP gene mutation. METHODSA 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. RESULTSA 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