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Vasopressin Receptor Mutations in Nephrogenic Diabetes Insipidus

  • Daniel G. Bichet
    Correspondence
    Address reprint requests to Daniel G. Bichet, MD, Research Centre, Hôpital du Sacré-Coeur de Montréal, 5400 Boulevard Gouin West, Montréal, Québec H4J 1C5, Canada.
    Affiliations
    Genetics of Renal Diseases, Groupe d'Étude des Protéines, Membranaires, Montréal, Québec, Canada. Department of Medicine and Physiology, Université de Montréal, Research Centre, Montréal, Québec, Canada. Nephrology Service, Hôpital du Sacré-Coeur de Montréal, Montréal, Québec, Canada.
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      Summary

      The purpose of this review is first to describe the importance of early detection of vasopressin receptor mutations responsible for X-linked nephrogenic diabetes insipidus (NDI). We have proposed that all families with hereditary diabetes insipidus should have their molecular defect identified because early diagnosis and treatment of affected infants can avert the physical and mental retardation that results from repeated episodes of dehydration. Secondly, 95 published missense mutations responsible for X-linked NDI are likely to result in misfolded arginine-vasopressin V2 receptors that are trapped in the endoplasmic reticulum. These misfolded receptors are unable to reach the plasma membrane in principal collecting duct cells and to engage the circulating antidiuretic hormone, arginine-vasopressin. These misfolded proteins potentially could be rescued with pharmacologic chaperones, an active area of research pertinent to other hereditary protein misfolding diseases such as cystic fibrosis, phenylketonuria, and Anderson-Fabry disease among many others. Finally, a long-term careful surveillance of all patients with hereditary NDI should be performed to prevent chronic renal failure likely caused by the long-term functional tract obstruction with reflux.

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