43. Father-son renal transplantation of X-linked alport syndrome with COL4A5 mutation: A case report
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Abstract
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.
Article Details
Keywords
Alport syndrome, renal transplant, COL4A5 gene mutation
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