Pirson Y
Service de Néphrologie, Cliniques universitaires St. Luc, Université catholique de Louvain, Bruxelles.
Bull Mem Acad R Med Belg. 1996;151(10-11):447-52; discussion 452-3.
Alport syndrome is a hereditary nephropathy, inconstantly associated with sensorineural deafness and ocular abnormalities. These manifestations result from a structural defect in type IV collagen. Recent genetic advances have provided a molecular basis for the two main subsets of the disease, namely the X-linked and the autosomal recessive forms. It has just been shown that the autosomal dominant entity known as benign familial haematuria is actually due to a heterozygote mutation of the gene accounting for the autosomal recessive form of Alport syndrome. The genetic breakthrough has already clinical and pathophysiological implications.
阿尔波特综合征是一种遗传性肾病，常伴有感音神经性耳聋和眼部异常。这些表现是由IV型胶原的结构缺陷引起的。最近的遗传学进展为该疾病的两个主要亚型，即X连锁型和常染色体隐性型，提供了分子基础。刚刚发现，被称为良性家族性血尿的常染色体显性实体实际上是由于导致阿尔波特综合征常染色体隐性形式的基因杂合突变所致。这一遗传学突破已经具有临床和病理生理学意义。
