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01-07-2010 | Brief Report

A tubulointerstitial nephritis antigen gene defect causes childhood-onset chronic renal failure

Authors: Yutaka Takemura, Machiko Koshimichi, Keisuke Sugimoto, Hidehiko Yanagida, Shinsuke Fujita, Tomoki Miyazawa, Kohei Miyazaki, Mitsuru Okada, Tsukasa Takemura

Published in: Pediatric Nephrology | Issue 7/2010

Abstract

Tubulointerstitial nephritis antigen (TIN-ag), which has been localized to the renal tubular basement membrane, is a target antigen in some forms of TIN. Physiologically, TIN-ag is thought to be important in maintaining the structure of renal tubular basement membrane. Here we describe a child with chronic renal failure showing a human TIN-ag gene (hTIN-ag) deletion. Immunohistochemical examination using an antihuman TIN-ag monoclonal antibody showed attenuation or lack of TIN-ag staining along the renal tubular basement membrane, whereas nephrocystin staining was normal in renal tubules. Polymerase chain reaction detected no amplification band corresponding to hTIN-ag in this patient. Testing for a deletion in this gene showed nearly complete deletion. By using array-comparative genomic hybridization method, large deletion of a gene mapped on chromosome 6p11-6p12 was demonstrated, corresponding to the locus where hTIN-ag is located. Therefore, an hTIN-ag defect may be a potent cause of end-stage renal failure in childhood.

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Title: A tubulointerstitial nephritis antigen gene defect causes childhood-onset chronic renal failure
Authors: Yutaka Takemura
Machiko Koshimichi
Keisuke Sugimoto
Hidehiko Yanagida
Shinsuke Fujita
Tomoki Miyazawa
Kohei Miyazaki
Mitsuru Okada
Tsukasa Takemura
Publication date: 01-07-2010
Publisher: Springer-Verlag
Published in: Pediatric Nephrology / Issue 7/2010
Print ISSN: 0931-041X
Electronic ISSN: 1432-198X
DOI: https://doi.org/10.1007/s00467-010-1463-8

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A tubulointerstitial nephritis antigen gene defect causes childhood-onset chronic renal failure

Abstract

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Abstract

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