过去数十年中女性Alport综合征(Alport syndrome,AS)患者的诊断与评估未被重视.X染色体连锁AS(XLAS)占AS的绝大多数,其中XLAS女性发病率高于男性,其临床表型多样性、肾外特征性改变少且轻、肾脏病理改变不典型,成年女性并发症多,所以漏诊与误诊的机会多于男性患者.本文重点阐述女性XLAS患者临床表型多样性的机制、肾脏损害的临床与病理特征及诊断依据,同时讨论了女性XLAS基因携带者作为肾移植供者是否合适等问题,旨在促使临床医生重视女性AS,减少临床漏诊与误诊,为XLAS家族亲属间肾移植提供参考.%Issues with females from Alport syndrome families have been ignored for many decades. The prevalence of females with mutated genes associated with Alport syndrome is higher than that of males. The diagnosis of females with Alport syndrome is a challenge for the wide spectrum of phenotypes of the disease, the untypical renal and out-renal damages, and the complicated settings in clinical presentations. In this review, we tried to delineate the pathogenesis of the X chromosome inactivation, to describe the diagnostic criteria of renal pathology, to illustrate the characteristic changes in immunofluorescent studies and the ultrastructural abnormalities under electronic microscopy. The issues with prognosis and renal transplantation concerning females from families of Alport syndrome were also disscused.
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