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Chapter-49 Hereditary Nephritis

BOOK TITLE: Principles and Practice of Pediatric Nephrology

Author
1. Gulati Sanjeev
2. Kumar Jitendra
ISBN
9788180613043
DOI
10.5005/jp/books/11074_49
Edition
1/e
Publishing Year
2004
Pages
8
Author Affiliations
1. Fortis Hospitals, Sector B, Pocket 1, Aruna Asaf Ali Marg, New Delhi, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India, Sanjay Gandhi Post Graduate Institute of Medical Research, Lucknow, e-mail: sgulati@sgpgi.ac.in, Fortis Institute of Renal Sciences and Transplantation, New Delhi, India, Fortis Hospitals, New Delhi, Fortis Escorts Heart Institute and Fortis Flt Lt Rajan Dhall Hospital, New Delhi, India, Chirayu Medical College; Sarvottam Hospital, Bhopal, Madhya Pradesh, India, Fortis Group of Hospitals, Vasant Kunj, New Delhi, India
Chapter keywords

Abstract

Different disease associations and inheritance patterns were reported. Studies for genetic mapping of variants and the prognosis of renal failure are being done. Recently, the genetic defects of various types have been identified. The commonest are mutations and small deletions. Due to missense mutation another AA in collagenous domain may replace glycine. As glycine is very small, it can allow trimer formation by fitting into the interior of tightly wound triple helix, but another AA may interfere with the normal folding of the a chain. Substitution of cysteine in NCI domain will prevent formation of disulphide bond. Splice-site mutation can result in skipping of variable number of exons having defective α5 protein. Microhematuria may be due to defective GBM and episodic gross hematuria precipitated by infection may be due to susceptibility of Alport’s GBM to proteolysis. Anterior lenticoncus may be due to lack of strength of anterior lens capsule to maintain normal conformation of lens.

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