Nephrogenic diabetes insipidus history and symptoms
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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
History
Symptoms
Nephrogenic diabetes inspidus (NDI) is suspected in individuals with:
- Polyuria (excessive urine production)
- Polydipsia (excessive thirst)
In children,
- Vomiting
- Gagging or retching
- Poor feeding
- Constipation or diarrhea
- Failure to thrive
- Unexplained fevers
- Lethargy or irritability
Symptoms common to children and elderly are:
- Dehydration associated with hot environment, water deprivation, diarrhea or fever
- Seizures with rapid increase or decrease in serum osmolarity
In patients with partial NDI,
- Tend to be diagnosed in later childhood
- Usually do not have growth or developmental delay and are able to concentrate the urine in response to dehydration or DDAVP administration, but to a lesser extent than unaffected individuals.
Heterozygotes for X-linked NDI, may have no symptoms or variable degree of polyuria or polydipsia or may be as severely affected as males. In females heterozygous for AVPR2 mutations, a correlation between urine-concentrating ability (and symptoms) and skewed X-chromosome inactivation in leukocytes has been reported in one family [Nomura et al 1997, Kinoshita et al. 2004].