Isolated steroid-resistant nephrotic syndrome in a Chinese child carrying a de novo mutation in WT1 gene:a case report and literature review

• मुख्य लेखकों: Yiyang Li (लेखक), Chuan Tian (लेखक), Yajun Wang (लेखक), Guoda Ma (लेखक), Riling Chen (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2022-06-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Abstract Background Isolated steroid-resistant nephrotic syndrome (ISRNS) is caused by mutations in the Wilms' tumor-1 (WT1) gene, which encodes glomerular podocytes and podocyte slit diaphragm.We report a novel 8-year-old female patient with ISRNS carrying a de novo missense mutation in WT1 ge...