What is the incidence of hereditary central 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

Approximately 10% of central DI cases are familial (although some experts suggest that familial DI may be underdiagnosed). [14] Most of these cases show autosomal dominant inheritance and result from a defect in the AVP-NP2 gene on chromosome 20p13. The defect results in the production of mutant prohormone that is toxic to the neuron and eventually destroys it. [15, 16, 17]


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