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.
Keywords
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Article info
Footnotes
This study was supported by the Canadian Institutes of Health Research, and by the Kidney Foundation of Canada. Dr. Bichet holds a Canada Research Chair in Genetics of Renal Diseases.
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Copyright
© 2008 Elsevier Inc. Published by Elsevier Inc. All rights reserved.
