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Nephrogenic diabetes insipidus

Synonym(s) -
Prevalence 1-9 / 1 000 000
Inheritance Autosomal dominant
or Autosomal recessive
or X-linked recessive
Age of onset Infancy
  • N25.1
  • C0162283
  • D018500
  • 10029147


Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Prevalence is estimated at 1-2/1 000 000. Polyuria may exceed 10 litres in children. The disease results from the failure of the renal tubules to respond to antidiuretic hormone. In most cases, the disease is X-linked recessive and caused by mutations in the gene located on Xq28 coding for the V2 receptor of antidiuretic hormone. In cases of autosomal recessive or dominant transmission, NDI is caused by mutations in the AQP2 gene (located on chromosome 12) that codes for aquaporin-2. Aquaporin-2 is involved in the transportation of water in the renal tubules. Abnormal urine concentration does not respond to antidiuretic hormone treatment. Patients should receive a low salt diet with limited potassium and protein intake and take thiazide diuretics in combination with indomethacin. This treatment has changed the life of affected patients, especially infants.

Expert reviewer(s)

  • Pr Patrick NIAUDET

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Clinical genetics review
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