Sakai Ken, Muramatsu Masaki, Ogiwara Hidetaka, Kawamura Takeshi, Arai Kenji, Aikawa Atsushi, Ohara Takehiro, Mizuiri Sonoo, Joh Kensuke, Naito Ichiro, Hasegawa Akira
Department of Nephrology, Toho University School of Medicine, Tokyo, Japan.
Clin Transplant. 2003;17 Suppl 10:4-8. doi: 10.1034/j.1399-0012.17.s10.5.x.
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.
我们讨论了一名患有奥尔波特综合征的患者，其接受了来自一名患有薄基底膜病供体的肾移植。一名30岁女性，基于感音神经性听力损失、典型的肾活检结果及镜下血尿家族史被诊断为奥尔波特综合征，随后进入慢性血液透析治疗。之后她接受了来自其父亲的肾移植，其父亲有感音神经性听力损失及持续性镜下血尿。肾移植当天，再灌注后1小时的移植肾活检显示为薄基底膜病。我们使用α链特异性IV型胶原单克隆抗体通过免疫组化染色对患者的自体肾活检标本进行了重新检测。肾小球基底膜上未检测到IV型胶原α3、α4及α5链的表达，但在鲍曼囊基底膜上观察到α5链呈阳性染色。诊断为常染色体隐性奥尔波特综合征。我们得出结论，该家族可能表现出相同基因型的不同表型：一个患有终末期肾病，另一个患有薄基底膜病。
