Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria
Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria
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DOI：
10.1016/j.ymgme.2008.06.007
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发表时间：
2008-09-01
影响因子：
3.8
通讯作者：
de Lonlay, P.
中科院分区：
文献类型：
--
作者：
Cosson, M. A.;Touati, G.;de Lonlay, P.
一名男婴在出生10天时被诊断为甲基丙二酸尿症(MMA)，从4岁开始出现持续性肝肿大并升高转氨酶。随后，他被诊断出患有Leigh综合征，并因终末期肾功能衰竭而需要进行肾移植。巨大的肝母细胞瘤导致他11岁时死亡。在培养的皮肤成纤维细胞和肾脏活检组织中均未检测到甲基丙二酰辅酶A变位酶的活性，肾脏显示出多条呼吸链缺陷。线粒体功能障碍和/或移植后免疫抑制治疗应被认为是该患者肝癌的可能原因。(C)2008 Elsevier Inc.保留所有权利。
A boy who was diagnosed with methylmalonic aciduria (MMA) at the age of 10 days developed persistent hepatomegaly and raised transaminases from the age of 4 years. He was subsequently diagnosed with Leigh syndrome and required a kidney transplantation for end-stage renal failure. A massive hepatoblastoma led to his death by the age of 11 years. Methylmalonyl-CoA mutase activity was undetectable on both cultured skin fibroblasts and kidney biopsy and multiple respiratory chain deficiency was demonstrated in the kidney. Mitochondrial dysfunction and/or post-transplant immunosuppressive therapy should be considered as a possible cause of liver cancer in this patient. (C) 2008 Elsevier Inc. All rights reserved.