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Nephrogenic diabetes insipidus

Orpha number ORPHA223
Synonym(s) -
Prevalence 1-9 / 1 000 000
Inheritance Autosomal dominant
Autosomal recessive
X-linked recessive
Age of onset Infancy
Neonatal
ICD-10
  • N25.1
ICD-O -
OMIM
UMLS
  • C0162283
MeSH
  • D018500
MedDRA
  • 10029147
SNOMED CT
  • 111395007

Summary

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)

  • Dr Patrick NIAUDET

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Detailed information

Summary information
Emergency guidelines
  • DE (2009,pdf)
  • ES (2009,pdf)
  • PT (2009,pdf)
  • EN (2009,pdf)
  • FR (2009,pdf)
  • IT (2012,pdf)
Clinical genetics review
  • EN (2012)
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