Division of Nephrology, Endocrinology, and Vascular Medicine, Tohoku University Graduate School of Medicine, Japan.
Department of Community Medical Support, Tohoku Medical Megabank Organization, Tohoku University, Japan.
Intern Med. 2021 Sep 15;60(18):2991-2996. doi: 10.2169/internalmedicine.6987-20. Epub 2021 Apr 5.
A 69-year-old woman presented with mild renal dysfunction, proteinuria, and sensorineural hearing loss. A renal biopsy showed focal segmental glomerulosclerosis with thinning of the glomerular basement membrane. There was a positive family history of end-stage kidney disease and hearing loss. Although Alport syndrome was suspected from these features, a genetic test using next-generation sequencer identified a novel missense mutation in LMX1B, c.655C>G: p. (Pro219Ala). In silico analyses predicted the pathogenicity of the mutation. Thus, the present case was diagnosed as LMX1B-associated nephropathy presenting with Alport syndrome-like phenotype, expanding the disease spectrum of LMX1B nephropathy.
一位 69 岁女性因轻度肾功能障碍、蛋白尿和感觉神经性听力损失就诊。肾活检显示局灶节段性肾小球硬化伴肾小球基底膜变薄。有终末期肾病和听力损失的阳性家族史。尽管这些特征提示 Alport 综合征，但使用下一代测序仪的基因检测发现了 LMX1B 中的一个新错义突变，c.655C>G：p.（Pro219Ala）。计算机分析预测了突变的致病性。因此，本例被诊断为 LMX1B 相关性肾病，表现为 Alport 综合征样表型，扩大了 LMX1B 肾病的疾病谱。
