Genetic aspects of pediatric nephrotic syndrome and anti-nephrin antibodies.

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Tác giả: Tomoko Horinouchi, Kazumoto Iijima, Kandai Nozu

Ngôn ngữ: eng

Ký hiệu phân loại: 745.5928 Handicrafts

Thông tin xuất bản: Japan : Clinical and experimental nephrology , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 707380

Nephrotic syndrome is the most common glomerular disease in children, and various hypotheses regarding its etiology have been proposed, primarily focusing on immune-related mechanisms. Nephrotic syndrome can manifest as a monogenic disease caused by deleterious variants in genes such as NPHS1, which encodes nephrin. In steroid-sensitive nephrotic syndrome, HLA class II and immune-related genes have been identified as susceptibility genes. Moreover, NPHS1 is a susceptibility gene for steroid-sensitive nephrotic syndrome in patients from East Asian populations. Anti-nephrin antibodies have been identified as a significant factor in the pathogenesis of nephrotic syndrome. These discoveries have substantially advanced our understanding of nephrotic syndrome. However, the mechanisms underlying the production of anti-nephrin antibodies and their association with genetic backgrounds have remained unclear and warrant further investigation.
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