Successful Liver Transplantation in a Pediatric Patient With Transaldolase Deficiency.

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Tác giả: Ahmet Atasever, Dilek Guller, Ebru Turan, Sinan Efe Yazici, Yildiray Yuzer

Ngôn ngữ: eng

Ký hiệu phân loại: 631.847 Biological methods of soil nitrification

Thông tin xuất bản: Denmark : Pediatric transplantation , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 676062

BACKGROUND: Transaldolase deficiency (TALDO) is a rare autosomal recessive disorder of the pentose phosphate pathway, presenting with end-stage liver disease, renal tubular dysfunction, and coagulopathies. Liver transplantation has emerged as a potential treatment for end-stage liver disease in TALDO patients, though clinical evidence is limited to seven reported cases. METHODS: We describe the case of a pediatric patient with TALDO who successfully underwent living donor liver transplantation. Clinical, preoperative, surgical, and postoperative data were reviewed and compared with previously reported cases. RESULTS: A 3-year 4-month-old girl with TALDO presented with end-stage liver disease, recurrent bleeding, and suspected hepatocellular carcinoma (HCC). She received a left lateral segment graft from her father. Postoperatively, coagulopathy and bleeding episodes resolved, with stable liver function at 1 year. Histopathology revealed cirrhosis without HCC. Complications included bile duct stenosis, successfully managed. CONCLUSIONS: This case emphasizes liver transplantation as a lifesaving option for TALDO patients with end-stage liver disease. While short-term outcomes are promising, further studies are needed to evaluate long-term prognosis and growth outcomes. Reporting additional cases is vital to refine management strategies.
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