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

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/k

SUBMITTER: Phan VTT 

PROVIDER: S-EPMC8573270 | biostudies-literature | 2021 Nov-Dec

REPOSITORIES: biostudies-literature