Bodziak K A, Hammond W S, Molitoris B A
Renal Division, University of Colorado Health Sciences Center, Denver.
Am J Kidney Dis. 1994 Apr;23(4):605-18. doi: 10.1016/s0272-6386(12)80387-8.
The inherited diseases of the glomerular basement membrane include Alport's syndrome (AS), nail-patella syndrome, and thin basement membrane nephropathy. Classical AS is inherited in an X-linked manner and accounts for approximately 85% of the cases. Its manifestations include hematuria, sensorineural hearing loss, ocular defects, and a progression to renal failure. A defect(s) in the alpha 5 (IV) chain of type IV collagen is believed to be the etiology of classic AS, and alterations in its encoding gene localized to the X-chromosome have been elucidated. Although isolated cases of anti-glomerular basement membrane glomerulonephritis have been reported following renal transplantation in patients with AS, it is considered an effective form of renal replacement therapy. Less is known regarding the genetic basis of the autosomal-dominant form of AS, which apparently accounts for the remaining 15% of the cases. Nail-patella syndrome is characterized by nail dysplasia, patellar hypoplasia or aplasia, and nephropathy. It is inherited in an autosomal-dominant fashion with the gene locus assigned to the long arm of chromosome 9. Possible linkage between the COL5A1 gene and the gene for nail-patella syndrome has been suggested. Approximately 30% of the patients progress to end-stage renal failure. Renal transplantation has been successful in treating patients who progress to end-stage renal failure. Thin basement membrane nephropathy is an autosomal dominant trait that accounts for approximately 30% of the cases presenting as persistent, asymptomatic hematuria. The cause of thin basement membrane nephropathy is unknown at present. No decline in renal function is associated with thin basement membrane nephropathy.
肾小球基底膜遗传性疾病包括阿尔波特综合征（AS）、指甲-髌骨综合征和薄基底膜肾病。典型的AS以X连锁方式遗传，约占病例的85%。其表现包括血尿、感音神经性听力丧失、眼部缺陷以及进展为肾衰竭。IV型胶原α5（IV）链的缺陷被认为是典型AS的病因，并且已经阐明了其位于X染色体上的编码基因的改变。尽管有报道称AS患者肾移植后出现孤立性抗肾小球基底膜肾小球肾炎病例，但肾移植仍被认为是一种有效的肾脏替代治疗形式。关于常染色体显性遗传型AS的遗传基础了解较少，这种类型显然占其余15%的病例。指甲-髌骨综合征的特征是指甲发育异常、髌骨发育不全或发育不良以及肾病。它以常染色体显性方式遗传，基因位点定位于9号染色体长臂。有人提出COL5A1基因与指甲-髌骨综合征基因之间可能存在连锁关系。约30%的患者会进展为终末期肾衰竭。肾移植已成功治疗进展为终末期肾衰竭的患者。薄基底膜肾病是一种常染色体显性性状，约占以持续性无症状血尿就诊病例的30%。目前薄基底膜肾病的病因尚不清楚。薄基底膜肾病与肾功能下降无关。
