Nephrogenic diabetes insipidus history and 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].

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