Raju Priya, Cimbaluk David, Korbet Stephen M
Department of Medicine , Rush University Medical Center , Chicago, IL , USA.
Clin Kidney J. 2013 Dec;6(6):630-634. doi: 10.1093/ckj/sft107. Epub 2013 Aug 26.
X-linked Alport syndrome (XLAS) arises from mutations in the gene encoding the α5-chain of type IV collagen and is associated with hematuria, ocular abnormalities and high-tone sensorineural hearing loss. Nearly all affected males have decreased kidney function resulting in end-stage renal disease (ESRD) as early as the second decade of life. It was long thought that affected females had a benign outcome; however, in recent decades, it has become quite clear that they too are at risk for developing nephrotic syndrome, decreased kidney function and ESRD. We report two young females presenting with microscopic hematuria and proteinuria diagnosed with XLAS on renal biopsy. Both developed nephrotic-range proteinuria and progressive renal insufficiency. Additionally, both developed extra-renal manifestations of XLAS. The ultrastructural and immunofluorescence features on kidney biopsy were instrumental in making the diagnosis of heterozygous XLAS as neither patient had a family history of AS.
X连锁Alport综合征（XLAS）由编码IV型胶原α5链的基因突变引起，与血尿、眼部异常和高频感音神经性听力损失有关。几乎所有受影响的男性在生命的第二个十年就出现肾功能下降，导致终末期肾病（ESRD）。长期以来，人们一直认为受影响的女性预后良好；然而，近几十年来，很明显她们也有患肾病综合征、肾功能下降和ESRD的风险。我们报告了两名年轻女性，她们因肾活检诊断为XLAS而出现镜下血尿和蛋白尿。两人均出现肾病范围的蛋白尿和进行性肾功能不全。此外，两人均出现了XLAS的肾外表现。肾活检的超微结构和免疫荧光特征有助于诊断杂合性XLAS，因为两名患者均无AS家族史。
