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Living related kidney transplantation in a patient with autosomal‐recessive Alport syndrome
Author(s) -
Sakai Ken,
Muramatsu Masaki,
Ogiwara Hidetaka,
Kawamura Takeshi,
Arai Kenji,
Aikawa Atsushi,
Ohara Takehiro,
Mizuiri Sonoo,
Joh Kensuke,
Naito Ichiro,
Hasegawa Akira
Publication year - 2003
Publication title -
clinical transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.918
H-Index - 76
eISSN - 1399-0012
pISSN - 0902-0063
DOI - 10.1034/j.1399-0012.17.s10.5.x
Subject(s) - medicine , alport syndrome , transplantation , basement membrane , renal biopsy , pathology , glomerular basement membrane , biopsy , kidney disease , kidney transplantation , type iv collagen , sensorineural hearing loss , glomerulonephritis , kidney , hearing loss , laminin , biology , extracellular matrix , genetics , audiology
We discuss a patient with Alport syndrome who received a renal transplant from a donor with thin basement membrane disease. A 30‐year‐old woman, diagnosed with Alport syndrome on the basis of sensorineural hearing loss, characteristic renal biopsy findings and a family history of microhaematuria, entered chronic haemodialysis therapy. She then received a renal transplant donated from her father, who had sensorineural hearing loss and persistent microhaematuria. On the day of renal transplantation, a 1‐h graft biopsy after reperfusion showed thin basement membrane disease. We re‐tested the patient's native kidney biopsy specimen by immunohistochemical staining using α‐chain‐specific collagen type IV monoclonal antibodies. There was no expression of collagen type IV α3‐, α4‐ and α5‐chain on glomerular basement membrane, but positive staining of α5‐chain on Bowman's capsular basement membrane was noted. A diagnosis of autosomal‐recessive Alport syndrome was made. We concluded that this family might display different phenotypic expressions of the same genotype: one suffered end‐stage renal disease and the other thin basement membrane disease.