论文部分内容阅读
Alport综合征(Alport syndrome,AS)是以血尿、感音神经性耳聋和进行性肾功能减退为临床特点的遗传性肾脏疾病,X连锁显性遗传(X-linked Alport syndrome,XLAS)为其主要遗传方式,因COL4A5和(或)COL4A6基因突变所致。X连锁Alport综合征女性患者临床表型差异很大,轻者无症状或仅表现为镜下血尿,重者有慢性肾功能衰竭,尤其是来自同一家系的女性患者临床表型可以明显不同,这种现象不能完全用COL4A5基因突变类型来解释。近年来,研究显示XLAS女性患者临床表型的差异与COL4A5突变mRNA及基底膜a5(Ⅳ)链的表达量相关,而COL4A5突变mRNA及基底膜a5(Ⅳ)链的表达量不同的机制可能与X染色体失活有关,其他表观遗传学调控方式也可能参与其中。该文就X连锁Alport综合征女性患者临床表型差异的可能机制进行了文献综述。
Alport syndrome (AS) is a hereditary renal disease characterized by hematuria, sensorineural hearing loss and progressive renal dysfunction. X-linked Alport syndrome (XLAS) Genetic mode, due to COL4A5 and (or) COL4A6 gene mutation. Clinical manifestations vary significantly in women with X-linked Alport syndrome, with asymptomatic or mild microscopic hematuria in those with mild or severe renal failure, especially in women with the same pedigree. The phenomenon can not be completely explained by the type of COL4A5 mutation. In recent years, studies have shown that the clinical phenotype of XLAS female patients with COL4A5 mutant mRNA and basement membrane a5 (Ⅳ) chain expression levels, and COL4A5 mutant mRNA and basement membrane a5 (Ⅳ) chain expression levels may be different mechanisms X chromosome inactivation, other epigenetic regulation may also be involved. This article reviews the possible mechanisms of the clinical phenotypic differences in female patients with X-linked Alport syndrome.