| Autor: |
Fang, Zhengying, Zhang, Chunli, Jin, Yuanmeng, Tong, Jun, Liu, Jian, Hao, Xu, Weng, Qinjie, Yu, Shuwen, Du, Wen, Cai, Yikai, Zheng, Qimin, Yang, Li, Ren, Hong, Pan, Xiaoxia, Xie, Jingyuan |
| Zdroj: |
American Journal of Kidney Diseases; February 2023, Vol. 81 Issue: 2 p240-244, 5p |
| Abstrakt: |
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 TBC1D8Bgene 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 TBC1D8Bwas detected by whole-exome sequencing. By comparing our case with reports of other patients with TBC1D8Bvariants, we suggest possible genotype-phenotype correlations. To our knowledge, this is the first report identifying a pathogenetic variant in the TBC domain of TBC1D8Bin 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. |
| Databáze: |
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