Feingold J, Bois E
Unité de Recherches de Génétique Epidémiologique, Château de Longchamp, Paris, France.
Pediatr Nephrol. 1987 Jul;1(3):436-8. doi: 10.1007/BF00849250.
The pattern of inheritance of Alport's syndrome has been controversial for some time. Recent studies have clarified the mode of inheritance in this disease. Alport's syndrome is a heterogeneous disorder made up of a number of genetically distinct syndromes, with an autosomal dominant, an X-linked dominant and a rare autosomal recessive form. Clinical analysis shows that there are many distinct forms with or without nerve deafness, and with early or late occurrence of end-stage renal disease.
一段时间以来,奥尔波特综合征的遗传模式一直存在争议。最近的研究已经阐明了这种疾病的遗传方式。奥尔波特综合征是一种异质性疾病,由多种基因不同的综合征组成,包括常染色体显性、X连锁显性和罕见的常染色体隐性形式。临床分析表明,有许多不同的形式,伴有或不伴有神经性耳聋,以及终末期肾病的早发或晚发。