Nephrogenic diabetes insipidus pathophysiology
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Differentiating Nephrogenic diabetes insipidus from other Diseases |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor in Chief: Cafer Zorkun, M.D., Ph.D. [2]
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Overview
Pathophysiology
Nephrogenic diabetes insipidus (NDI) is characterized by inability to concentrate the urine, which results in polyuria (excessive urine production) and polydipsia (excessive thirst). Affected untreated infants usually have poor feeding and failure to thrive, and rapid onset of severe dehydration with illness, hot environment, or the withholding of water. Short stature and secondary dilatation of the ureters and bladder from the high urine volume is common in untreated individuals.
Genetics
- AVPR2. A gain-of-function mutation in AVPR2 was reported to produce an abnormality called "nephrogenic syndrome of inappropriate antidiuresis" [Feldman et al 2005, Knoers 2005].
- AQP2. No other phenotypes are known to be associated with mutations in AQP2.