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[Nephrogenic diabetes insipidus].

Daniel Georges Bichet1

  • 1Génétique des maladies rénales, service de néphrologie, départements de médecine et de physiologie, centre de recherche, hôpital du Sacré-Coeur de Montréal, université de Montréal, Montréal (Québec), Canada. daniel.bichet@umontreal.ca

Nephrologie & Therapeutique
|November 4, 2006
PubMed
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Vasopressin increases urinary albumin excretion in rats and humans: involvement of V2 receptors and the renin-angiotensin system.

Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association·2003
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Nephrogenic diabetes insipidus prevents kidney water concentration due to issues with the arginine-vasopressin receptor 2 (AVPR2) or aquaporin-2 (AQP2) genes. Early diagnosis of genetic forms is crucial to prevent developmental issues in infants.

Area of Science:

  • Nephrology
  • Genetics
  • Endocrinology

Context:

  • Nephrogenic diabetes insipidus (NDI) is a condition where kidneys cannot concentrate urine, even with adequate arginine-vasopressin (AVP).
  • Clinical signs include excessive urination (polyuria), dilute urine (hyposthenuria), and excessive thirst (polydipsia).
  • Acquired NDI causes include hypercalcemia, hypokalemia, lithium use, and chronic kidney disease.

Purpose:

  • To outline the genetic basis and clinical manifestations of nephrogenic diabetes insipidus.
  • To differentiate between inherited and acquired forms of the condition.
  • To highlight the clinical significance of identifying the molecular defect in congenital NDI.

Summary:

  • Congenital NDI is often X-linked recessive, caused by mutations in the arginine-vasopressin receptor 2 (AVPR2) gene (Xq28).

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  • Autosomal forms of congenital NDI, accounting for about 10% of cases, result from mutations in the aquaporin-2 (AQP2) gene (12q13).
  • Other inherited disorders like Bartter's syndrome and Cystinosis also impair urine concentration.

    • Impact:

    • Identifying the specific genetic defect in congenital NDI is vital for early diagnosis.
    • Prompt treatment can prevent severe dehydration and associated physical and mental developmental delays in affected infants.
    • Understanding the genetic underpinnings of NDI aids in developing targeted diagnostic and therapeutic strategies.