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nephrogenic diabetes insipidus

 

Definition: diabetes insipidus due to inability of the kidney tubules to respond to antidiuretic hormone; X-linked inheritance, caused by mutation in the vasopressin V2 receptor gene (AVPR2) on Xq. There is also an autosomal dominant form [MIM*125800], caused by mutation in the aquaphorty 2 gene (AQP2) on 12q.

Synonym(s): vasopressin-resistant diabetes

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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