Living related kidney transplantation in a patient with autosomal-recessive Alport syndrome.
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 alpha-chain-specific collagen type IV monoclonal antibodies. There was no expression of collagen type IV alpha3-, alpha4- and alpha5-chain on glomerular basement membrane, but positive staining of alpha5-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.
Sakai
Ken
K
Department of Nephrology, Toho University School of Medicine, Tokyo, Japan. YRB03663@nifty.ne.jp
Muramatsu
Masaki
M
Ogiwara
Hidetaka
H
Kawamura
Takeshi
T
Arai
Kenji
K
Aikawa
Atsushi
A
Ohara
Takehiro
T
Mizuiri
Sonoo
S
Joh
Kensuke
K
Naito
Ichiro
I
Hasegawa
Akira
A
D000328:Adult; D005260:Female; D006801:Humans; D007676:Kidney Failure, Chronic / Q000209:etiology / Q000601:surgery*; D016030:Kidney Transplantation / Q000473:pathology*; D019520:Living Donors; D009394:Nephritis, Hereditary / Q000150:complications / Q000235:genetics* / Q000601:surgery*