成功对范可尼贫血患者进行序贯肝和造血干细胞移植。
Successful sequential liver and hematopoietic stem cell transplantation in a patient with Fanconi anemia.
机构信息
Department of Pediatrics, University of Milano-Bicocca, Milan, Italy.
Pediatric Hepatology, Gastroenterology and Transplantation, Hospital Papa Giovanni XXIII, Bergamo, Italy.
出版信息
Pediatr Transplant. 2023 Aug;27(5):e14503. doi: 10.1111/petr.14503. Epub 2023 Mar 13.
BACKGROUND
In Fanconi anemia bone marrow failure is the major cause of morbidity and mortality and hematopoietic stem cell transplantation represents the only curative treatment. Liver disease, in terms of elevated liver function tests, as well as benign and malignant liver tumors, occurs especially in case of androgen treatment. We report a unique case of a child with Fanconi anemia with FANCD2 mutation who developed neonatal cryptogenic liver cirrhosis and bone marrow failure. The child successfully underwent sequential liver transplantation and hematopoietic stem cell transplantation in the first 2 years of life. Nineteen months after hematopoietic stem cell transplantation and 30 months after liver transplantation, the patient is clinically well with normal hematopoietic function and excellent liver function.
CONCLUSION
This is the first FA patient who successfully received sequential LT and HSCT highlighting that successful sequential transplantation is feasible in Fanconi anemia patients.
背景
范可尼贫血症患者的主要发病和死亡原因是骨髓衰竭，造血干细胞移植是唯一的根治性治疗方法。在接受雄激素治疗的情况下，患者可能会发生肝脏疾病（表现为肝酶升高）、良性和恶性肝肿瘤。我们报告了一例独特的范可尼贫血症患儿病例，该患儿患有 FANCD2 基因突变，患有新生儿隐源性肝硬化和骨髓衰竭。该患儿在生命的头 2 年内成功地进行了序贯肝移植和造血干细胞移植。在造血干细胞移植后 19 个月和肝移植后 30 个月，患者的临床状况良好，造血功能正常，肝功能良好。
结论
这是首例成功接受序贯 LT 和 HSCT 的 FA 患者，这突出表明在范可尼贫血症患者中成功进行序贯移植是可行的。
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