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Hội chứng thận nhiễm mỡ bẩm sinh và sự tái phát protein niệu sau cấy ghép thận
Tóm tắt
Cấy ghép thận (RTx) là phương pháp điều trị duy nhất có thể chữa khỏi cho hầu hết các trường hợp hội chứng thận nhiễm mỡ bẩm sinh và ở trẻ sơ sinh (NS) do các khiếm khuyết di truyền ở các protein podocyte cầu thận. Kết quả của RTx ở những trẻ em này thường rất xuất sắc, không có sự tái phát hội chứng thận nhiễm mỡ. Tuy nhiên, một nhóm bệnh nhân với loại hội chứng thận bẩm sinh Phần Lan (CNF) cho thấy rõ ràng nguy cơ protein niệu sau khi cấy ghép thận. Hầu hết các bệnh nhân này có một đột biến đứt gãy đồng hợp tử (đột biến Fin-major) trong gen nephrin (NPHS1), dẫn đến sự vắng mặt hoàn toàn của protein podocyte chính, nephrin. Sau khi cấy ghép thận, những bệnh nhân này phát triển kháng thể chống nephrin, dẫn đến protein niệu trong phạm vi hội chứng thận nhiễm mỡ. Việc trao đổi huyết tương kết hợp với cyclophosphamide và kháng thể chống CD20 đã chứng tỏ là liệu pháp thành công cho những trường hợp này. Sự tái phát hội chứng thận nhiễm mỡ cũng đã xảy ra ở một vài bệnh nhân có đột biến trong gen podocin (NPHS2). Không có kháng thể chống podocin nào được phát hiện, và sinh lý bệnh của sự tái phát vẫn còn mở. Trong khi hầu hết các trường hợp này đã được giải quyết, liệu pháp tối ưu vẫn chưa được xác định.
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#Hội chứng thận nhiễm mỡ #cấy ghép thận #protein niệu #nephrin #podocin #liệu pháp điều trị.Tài liệu tham khảo
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