What are the genetic causes of nephrogenic diabetes insipidus (DI)?

Updated: Mar 18, 2020
  • Author: Romesh Khardori, MD, PhD, FACP; Chief Editor: George T Griffing, MD  more...
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Answer

Hereditary nephrogenic DI is relatively rare. [4] The most common inherited form results from mutations in the AVP receptor 2 gene (AVPR2) on chromosome Xq28. [22] Defects in the AVP receptor cause resistance to the antidiuretic effect of vasopressin. Because hereditary nephrogenic DI is an X-linked disorder, most cases occur in males; however, cases occasionally arise in females as a result of skewed X inactivation. [23]

Approximately 1% of familial nephrogenic DI cases result from mutations in AQP2 (aquaporin 2), a gene on chromosome 12q13 that gives rise to a water channel that is expressed exclusively in the kidney’s collecting ducts. Autosomal recessive and autosomal dominant forms of nephrogenic DI from AQP2 mutations have been reported. [3]


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