Genetic and Iatrogenic Defects in Peripheral Tolerance Associated with Anti-Nephrin Antibody-Associated Minimal Change Disease.

• Tác giả: Shreeram Akilesh, Karin Chen, Sangeeta Hingorani, Yuan Huang, J Ashley Jefferson, Keith H Keller, A Bilal Malik, Robyn C Reed, Kelly D Smith, Scott S Tykodi, Astrid Weins
• Ngôn ngữ: eng
• Ký hiệu phân loại: 331.25291 Conditions of employment
• Thông tin xuất bản: Switzerland : Glomerular diseases , 2025
• Bộ sưu tập: NCBI
• ID: 675300

Tóm tắt

INTRODUCTION: Minimal change disease (MCD) is a common cause of nephrotic syndrome in children and adults. Immune dysregulation is a contributor, but the relative roles of individual components of the immune system in MCD pathogenesis remain unclear. CASE PRESENTATION: Here, we present 2 patients with defects in immune tolerance mechanisms that developed MCD associated with anti-nephrin antibodies. The first patient had a pathogenic deletion in CONCLUSION: These cases demonstrate that genetic and iatrogenic mechanisms of breakdown in peripheral tolerance can lead to MCD.