Autosomal varient of nephrogenic diabetes insipidus is due to defect in
Correct Answer: Aquaporin 2
Description: Another cause of diabetes insipidus is inability of the kidneys to respond to vasopressin (nephrogenic diabetes insipidus). Two forms of this disease have been described. In one form, the gene for the V2 receptor is mutated, making the receptor unresponsive. The V2 receptor gene is on the X chromosome, thus this condition is X-linked and inheritance is sex-linked recessive. In the other form of the condition, mutations occur in the autosomal gene for aquaporin-2 and produce nonfunctional versions of this water channel, many of which do not reach the apical membrane of the collecting duct but are trapped in intracellular locations. Ref: Ganong&;s review of medical physiology,23rd edition, page: 668
Category:
Physiology
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