Ghép thận cha-con ở trẻ nam mắc hội chứng alport liên kết X với đột biến COL4A5: Báo cáo ca bệnh=Father-son renal transplantation of X-linked alport syndrome with COL4A5 mutation: A case report

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Tác giả: Thị Phượng Lương, Thu Hương Nguyễn, Thiên Nam Thái, Thùy Linh Trương

Ngôn ngữ: vie

Ký hiệu phân loại:

Thông tin xuất bản: Tạp chí Nghiên cứu y học (Đại học Y Hà Nội), 2024

Mô tả vật lý: tr.370-377

Bộ sưu tập: Metadata

ID: 244688

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Alport syndrome is an inherited renal disease caused by mutations in collagen type IV frequently resulting in end-stage renal disease. Reports around the world showed that patients with Alport syndrome who underwent renal transplantation had generally excellent outcomes. We reported a case of an 8-year-old boy diagnosed with glomerulonephritis - Alport syndrome with an X-linked COL4A5 gene mutation, progressing to end-stage chronic renal disease after 5 years. The child was treated with peritoneal dialysis for 6 months. After that, we performed a renal transplant with his father as the donor. Kidney transplant function fully recovered 7 days after surgery. Currently, 5 months post transplantation, he has gained 7kg, has normal blood pressure, normal serum urea and creatinine, and no proteinuria or hematuria. The case would like to emphasize the importance of a comprehensive analysis involving clinical signs, family history, and genetic testing for accurate diagnosis of Alport syndrome and consider renal transplant when the patient’s condition progresses to end-stage renal disease.Hội chứng Alport là bệnh thận di truyền do đột biến gen collagen loại IV, thường dẫn đến bệnh thận giai đoạn cuối. Các báo cáo trên thế giới cho thấy ghép thận ở bệnh nhân hội chứng Alport thường có kết quả rất tốt. Chúng tôi báo ca bệnh trẻ nam 8 tuổi được chẩn đoán viêm cầu thận - hội chứng Alport có đột biến gen COL4A5 liên kết X, tiến triển đến bệnh thận mạn giai đoạn cuối sau 5 năm. Trẻ được điều trị thẩm phân phúc mạc trong 6 tháng. Sau đó, chúng tôi tiến hành ghép thận cho trẻ với người cho sống là bố của trẻ. Chức năng thận ghép hồi phục hoàn toàn sau mổ 7 ngày. Hiện tại, sau ghép 5 tháng, trẻ tăng 7kg, huyết áp bình thường, ure và creatinin máu bình thường, không có protein niệu và hồng cầu niệu. Ca bệnh muốn nhấn mạnh đến tầm quan trọng kết hợp khám lâm sàng với khai thác tiền sử, bệnh sử và xét nghiệm gen để chẩn đoán hội chứng Alport xem xét ghép thận khi trẻ tiến triển đến bệnh thận giai đoạn cuối.

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