一例X连锁Alport综合征女性妊娠期随访

Follow-up study on the pregnancy of an X-linked dominant Alport syndrome female

Alport综合征(Alport syndrome,AS)是最常见的遗传性肾疾病,临床主要表现为血尿和进行性肾功能减退。AS是一种临床和遗传异质性疾病,X连锁显性遗传(X-linked dominant Alport syndrome,XLAS)为其主要遗传方式。女性XLAS患者临床表型差异较大,多数仅表现为镜下血尿,但部分女性患者也会出现肾衰竭。本文通过对一例XLAS女性患者妊娠期进行随访,观察妊娠过程对XLAS女性的影响。结果显示妊娠可引起或加重XLAS女性患者肾功能损害,并可伴随胎儿宫内发育迟缓。提示对于那些肾功能已经受损的女性AS患者,应该慎重选择妊娠。

Alport syndrome （AS） is a progressive renal disease characterized by hematuria and progressive renal failure. AS is a clinical and genetic heterogenous disease, X-linked dominant Alport syndrome（XLAS） is the major inheritance form. XLAS females have variable phenotypes, from microscopic hematuria to chronic renal failure. The effects of pregnancy course on pregnant woman and fetus were observed by follow-up study of an XLAS female. Results showed that pregnancy of the XLAS female was complicated by renal function deterioration, and fetal growth restriction. It suggests that the AS female with damaged renal function should be cautious in the choice of pregnancy.