Department of Nephrology, Yokkaichi Hazu Medical Center, Japan.
Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Japan.
Intern Med. 2021 Mar 15;60(6):911-915. doi: 10.2169/internalmedicine.6090-20. Epub 2020 Oct 14.
Collagenofibrotic glomerulopathy or LMX1B-associated nephropathy is a rare disease in which type III collagen accumulates in the glomeruli. We herein report a 64-year-old Japanese woman with an elevated serum creatinine level and persistent proteinuria for 7 years. An electron microscopic study using tannic acid showed curved and frayed collagen fibers within mesangial and subendothelial regions compatible with type III collagen depositions. The distribution of type IV collagen α1-6 chains was normal. Since no pathogenic mutations were identified in the LMX1B gene, she was diagnosed with collagenofibrotic glomerulopathy and treated with angiotensin II receptor blocker and calcium antagonist to control her blood pressure.
胶原纤维性肾小球病或 LMX1B 相关肾病是一种罕见疾病,其特征是 III 型胶原在肾小球中蓄积。本文报道了一例 64 岁日本女性,其血清肌酐水平升高且蛋白尿持续 7 年。使用鞣酸的电子显微镜研究显示,在系膜区和内皮下区存在弯曲和磨损的胶原纤维,与 III 型胶原沉积相符。IV 型胶原 α1-6 链的分布正常。由于在 LMX1B 基因中未发现致病突变,因此诊断为胶原纤维性肾小球病,并使用血管紧张素 II 受体阻滞剂和钙通道阻滞剂控制血压。