1. A Rare Case of Familial Neurogenic Diabetes Insipidus in a 22-Year-Old Man
- Author
-
Van T.T. Phan, MD, Zachary W. Bloomer, MD, Vien T.X. Phan, PhD, Mohamed K.M. Shakir, MD, and Thanh D. Hoang, DO
- Subjects
polyuria ,polydipsia ,central diabetes insipidus ,familial diabetes insipidus ,AVP gene ,desmopressin ,Diseases of the endocrine glands. Clinical endocrinology ,RC648-665 - Abstract
Objective: 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 AVP gene mutation. Methods: 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. Results: 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
- Published
- 2021
- Full Text
- View/download PDF