Work overview

Section 04 of 04

Patient perspective

A novel TRPC6 variant (c.131C>T, p.(Pro44Leu)) associated with focal segmental glomerulosclerosis: a case report

Fan Yang, Xiaoqi Wang, Yan Li, Kaijie Su, Ran Ding, Linlin Wu, Guorong Ma, Jianjie Yang, and Zhongxin Li · 2026

Contents

Section 04 of 04

  1. 01Introduction
  2. 02Discussion
  3. 03Limitations
  4. 04Patient perspective
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Work overview

Section 4 of 4

Patient perspective

Fan Yang, Xiaoqi Wang, Yan Li, Kaijie Su, Ran Ding, Linlin Wu, Guorong Ma, Jianjie Yang, and Zhongxin Li · about 1 minutes

The patient initially declined genetic testing due to high cost and uncertainty. After repeated counseling over 2 years, he consented. He reported good adherence to supportive therapy and salt restriction, as proteinuria reduction reinforced his confidence. He declined family segregation analysis, concerned that his parents might feel guilty or anxious, highlighting psychological challenges in genetic diagnosis.