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Chapter-52 Tubulopathies

BOOK TITLE: Principles and Practice of Pediatric Nephrology

Author
1. Gera Dinesh
ISBN
9788180613043
DOI
10.5005/jp/books/11074_52
Edition
1/e
Publishing Year
2004
Pages
23
Author Affiliations
1. Institute of Kidney Diseases and Research Center, Ahmedabad, Gujarat, India
Chapter keywords

Abstract

Diabetes insipidus is characterized by the excretion of large volumes of hypo-osmotic urine. Resistance to the antidiuretic action of vasopressin results in a clinical disorder commonly refered to as nephrogenic diabetes insipidus. The mutation responsible for the sex linked form of congenital nephrogenic diabetes insipidus have been traced to the distal long arm of the sex chromosome and located at the gene that code for the vasopressin V2 receptor (AVPR2). Congenital nephrogenic diabetes insipidus can also result from recessive mutations in each allele of the autosomal gene that codes for aquaporin-2 (AQP2), the protein that forms the water channels in renal medullary collecting ducts. Differentiation of nephrogenic diabetes insipidus from neurogenic diabetes insipidus and dipsogenic form is easy when it presents in classic way.

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