一名患有甲基丙二酸血症的肾移植患者的非霍奇金淋巴瘤:代谢易感性和免疫抑制的作用

IF 1.8 Q2 Biochemistry, Genetics and Molecular Biology
JIMD reports Pub Date : 2024-01-10 DOI:10.1002/jmd2.12411
Alberto B. Burlina, Alessandro P. Burlina, Renzo Mignani, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Matthias R. Baumgartner, Vincenza Gragnaniello
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引用次数: 0

摘要

甲基丙二酸血症 cblB 型(MMA cblB)是一种常染色体隐性遗传的氨基酸代谢先天性错误,会导致甲基丙二酰-CoA 突变酶的辅助因子腺苷钴胺素合成障碍。该病表现为发作性昏迷、呕吐、肌张力低下、代谢性酸中毒和高氨血症。终末期肾病是一种长期并发症。治疗方法包括补充维生素 B12、左旋肉碱和低蛋白饮食。肝脏、肾脏或肝肾联合移植是很有前景的选择,但并非没有并发症。我们报告了一名患有 MMA cblB 的患者,他在 18 岁时患上了终末期肾病。肾移植使他恢复了正常的肾功能和良好的代谢控制。不幸的是,二十年后,他患上了非霍奇金淋巴瘤,严重的化疗毒性导致他死亡。众所周知,实体器官移植后患淋巴增生性疾病的风险会增加。然而,在 MMA 中,线粒体功能障碍和副代谢产物等因素可能会进一步增加恶性肿瘤和药物毒性的风险。我们的报告强调了在对 MMA cblB 患者的长期随访中考虑癌症风险增加的重要性,尤其是在实体器官移植后。此外,在需要化疗时,应考虑并监测毒性和代谢失调风险的增加。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Non-Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression

Non-Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression

Methylmalonic acidemia cblB type (MMA cblB) is an autosomal recessive inborn error of amino acid metabolism that results in impaired synthesis of adenosylcobalamin, a cofactor of methylmalonyl-CoA mutase. It presents with episodes of coma, vomiting, hypotonia, metabolic acidosis, and hyperammonemia. End-stage kidney disease is a long-term complication. Treatments include vitamin B12 supplementation, L-carnitine, and a low-protein diet. Liver, kidney, or combined liver-kidney transplantations are promising options, but they are not without complications. We report a patient suffering from MMA cblB who developed end-stage kidney disease at 18 years of age. Kidney transplantation allowed him to recover normal kidney function and good metabolic control. Unfortunately, after two decades, he developed non-Hodgkin lymphoma and severe chemotherapy toxicity which led to his death. The risk of lymphoproliferative diseases is known to increase after solid organ transplantation. However, in MMA, factors including mitochondrial dysfunction and oncometabolites, may further increase the risk of malignancy and drug toxicity. Our report highlights the importance of considering the increased risk of cancer in long-term follow-up of MMA cblB patients, especially after solid organ transplantation. Moreover, when chemotherapy is needed, the increased risk of toxicity and metabolic decompensation should be considered and monitored.

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来源期刊
JIMD reports
JIMD reports Biochemistry, Genetics and Molecular Biology-Biochemistry, Genetics and Molecular Biology (miscellaneous)
CiteScore
3.30
自引率
0.00%
发文量
84
审稿时长
12 weeks
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