Tsalikova F D, Ignatova M S, Krasnopol'skaia K D, Tverskaia S M, Brydun A V
Ter Arkh. 1995;67(4):45-7.
Clinicomorphological findings are reported for two children from families with hereditary predisposition to hematuria characterized by early occurrence of chronic renal insufficiency, neurosensory hypoacusis, congenital ocular abnormalities inherited by sex-linked dominant type. Light microscopy of nephrobiopsies revealed diffuse mesangial proliferation in both children. Final diagnosis of Alport's syndrome was feasible only on molecular-genetic level after polymerase chain reactions had identified mutation in collagen type 4 alpha-5-chain gene on a long arm of X-chromosome in genotypes of both patients and their mothers. Genetical, clinical, morphological, evolutional and diagnostic aspects of Alport's syndrome are reviewed.
报告了两个来自血尿遗传易感性家庭的儿童的临床形态学发现，其特征为慢性肾功能不全早期出现、神经感觉性听力减退、先天性眼部异常，呈X连锁显性遗传。两名儿童的肾活检组织光镜检查均显示弥漫性系膜增生。仅在聚合酶链反应确定两名患者及其母亲的基因型中X染色体长臂上的IV型胶原α-5链基因突变后，才在分子遗传学水平上做出Alport综合征的最终诊断。本文对Alport综合征的遗传学、临床、形态学、演变及诊断方面进行了综述。
