Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).

doi:10.1016/j.beem.2016.02.010

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Article

Genetic forms of nephrogenic diabetes insipidus (NDI): Vasopressin receptor defect (X-linked) and aquaporin defect (autosomal recessive and dominant).

Best practice & research. Clinical endocrinology & metabolism - 1 Mar 2016

Bichet Daniel G, Bockenhauer Detlef

Abstract excerpt

Nephrogenic diabetes insipidus (NDI), which can be inherited or acquired, is characterized by an inability to concentrate urine despite normal or elevated plasma concentrations of the antidiuretic hormone, arginine vasopressin (AVP). Polyuria with hyposthenuria and polydipsia are the cardinal clinical manifestations of the disease. About 90% of patients with congenital NDI are males with X-linked NDI who have...

Topics

Animals
Aquaporin 2
Diabetes Insipidus, Nephrogenic
Genetic Diseases, X-Linked
Humans
Mutation
Receptors, Vasopressin

Source

Open in PubMed

Identifiers

PMID: 27156763
DOI: 10.1016/j.beem.2016.02.010

Genes

AQP2
AVPR2
AVP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026.

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