A tubulointerstitial nephritis antigen gene defect causes childhood-onset chronic renal failure.
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.
Department of Pediatrics, Kinki University School of Medicine, 377-2 Ohno-higashi, Osaka-Sayama, 589-8511, Japan.
Yutaka
Y
Takemura
Machiko
M
Koshimichi
Keisuke
K
Sugimoto
Hidehiko
H
Yanagida
Shinsuke
S
Fujita
Tomoki
T
Miyazawa
Kohei
K
Miyazaki
Mitsuru
M
Okada
Tsukasa
T
Takemura
D048868:Adaptor Proteins, Signal Transducing / Q000378:metabolism; D001485:Basement Membrane / Q000378:metabolism / Q000473:pathology; D015415:Biomarkers / Q000378:metabolism; D001706:Biopsy; D015815:Cell Adhesion Molecules / Q000235:genetics* / Q000378:metabolism; D002648:Child; D055028:Comparative Genomic Hybridization; D003598:Cytoskeletal Proteins; D005260:Female; D017353:Gene Deletion; D006801:Humans; D007676:Kidney Failure, Chronic / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D007684:Kidney Tubules / Q000378:metabolism / Q000473:pathology; D008565:Membrane Proteins / Q000378:metabolism; D009395:Nephritis, Interstitial / Q000235:genetics* / Q000473:pathology; D016133:Polymerase Chain Reaction
D048868:Adaptor Proteins, Signal Transducing; D015415:Biomarkers; D015815:Cell Adhesion Molecules; D003598:Cytoskeletal Proteins; D008565:Membrane Proteins; C108725:NPHP1 protein, human; C085434:TINAG protein, human