期刊
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
卷 167, 期 3, 页码 635-638出版社
WILEY
DOI: 10.1002/ajmg.a.36925
关键词
hepatoblastoma; methylmalonic aciduria; liver transplantation; kidney transplantation; chemotherapy
Childhood malignant tumors and their treatment are not well described in the natural history of methylmalonic aciduria (MMA). Here we present a case of hepatoblastoma occurring in the native liver of a 19-month-old male with MMA. His tumor was unresectable at diagnosis and he received neoadjuvant chemotherapy with cisplatin, 5-fluorouracil and vincristine. He developed metabolic acidosis and hyperglycemia during chemotherapy. In addition, he developed anemia, thrombocytopenia and febrile neutropenia. He underwent a combined liver-kidney transplant for local control of his tumor and to treat MMA. He remains in remission more than five years after his transplant. In addition, his transplant has cured his MMA and he is able to tolerate a regular diet without developing metabolic crises. (c) 2015 Wiley Periodicals, Inc.
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