局灶节段性肾小球硬化
医学
肾病综合征
尼福林
强的松
足细胞
肾活检
微小变化病
病理
内科学
活检
肾小球肾炎
蛋白尿
肾
作者
Zhengying Fang,Chunli Zhang,Yuanmeng Jin,Jun Tong,Jian Liu,Hao Xu,Qinjie Weng,Shuwen Yu,Wen Du,Yikai Cai,Qimin Zheng,Li Yang,Hong Ren,Xiaoxia Pan,Jingyuan Xie
标识
DOI:10.1053/j.ajkd.2022.06.012
摘要
Focal segmental glomerulosclerosis (FSGS) is a histological lesion with a variety of potential causes, including rare variants of podocyte-related genes. Recently, it has been found that variants in the TBC1D8B gene on the X chromosome can lead to early-onset focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome by affecting endocytosis and recycling of nephrin. Here, we report a 19-year-old Chinese patient with nephrotic syndrome and normal kidney function. He had a complete remission of nephrotic syndrome after full-dose prednisone and cyclosporine treatment. Unfortunately, a relapse of nephrotic syndrome occurred during prednisone tapering. Focal segmental glomerulosclerosis was proven by a kidney biopsy, and a hemizygous pathogenic variant located in the TBC (Tre-2-Bub2-Cdc16) domain of TBC1D8B was detected by whole-exome sequencing. By comparing our case with reports of other patients with TBC1D8B variants, we suggest possible genotype-phenotype correlations. To our knowledge, this is the first report identifying a pathogenetic variant in the TBC domain of TBC1D8B in an adult-onset focal segmental glomerulosclerosis patient with steroid-dependent NS. With this report, we broaden the clinical and genetic spectrum of X-linked genetic FSGS.
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