由TBC1D8B变异引起的成年发病女性局灶性节段性肾小球硬化伴肾病综合征1例报告

IF 3.9 2区医学 Q1 UROLOGY & NEPHROLOGY

Clinical Kidney Journal Pub Date : 2024-10-22 eCollection Date: 2024-12-01 DOI:10.1093/ckj/sfae310

Xiaoying Hu, Wenrong Cheng, Xiaoyi Xu, Lijun Sun, Guoqin Wang, Hong Cheng

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引用次数: 0

摘要

我们报告一例49岁的中国女性肾病综合征，其特点是肾功能正常，但对激素和免疫抑制治疗反应不佳，表明类固醇抵抗性肾病综合征。通过肾活检，患者被诊断为局灶性节段性肾小球硬化（门周围型），随后的全外显子组测序鉴定出一种与TBC1D8B基因TBC结构域有关的致病性移码变异。该患者是第一例被发现携带一种新型致病性TBC1D8B基因变异的迟发性中国女性。

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Adult-onset female focal segmental glomerulosclerosis with nephrotic syndrome caused by a TBC1D8B variant: a case report.

We report the case of a 49-year-old Chinese woman with nephrotic syndrome, characterized by normal kidney function but poor response to hormonal and immunosuppressive therapy, indicative of steroid-resistant nephrotic syndrome. Through renal biopsy, the patient was diagnosed as havingfocal segmental glomerulosclerosis (perihilar type), and subsequent whole-exome sequencing identified a pathogenic frameshift variant concerning the TBC domain of the TBC1D8B gene. This patient represents the first late-onset Chinese female who was found to carry a novel, pathogenic variant in the gene TBC1D8B.

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来源期刊

Clinical Kidney Journal Medicine-Transplantation

CiteScore

6.70

自引率

10.90%

发文量

242

审稿时长

8 weeks

期刊介绍： About the Journal Clinical Kidney Journal: Clinical and Translational Nephrology (ckj), an official journal of the ERA-EDTA (European Renal Association-European Dialysis and Transplant Association), is a fully open access, online only journal publishing bimonthly. The journal is an essential educational and training resource integrating clinical, translational and educational research into clinical practice. ckj aims to contribute to a translational research culture among nephrologists and kidney pathologists that helps close the gap between basic researchers and practicing clinicians and promote sorely needed innovation in the Nephrology field. All research articles in this journal have undergone peer review.