Jiang Yi-Zhou, Sun Li-Ying
Intensive Care Unit, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
Liver Transplantation Center, Clinical Center for Pediatric Liver Transplantation, National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
Front Pediatr. 2019 Mar 21;7:87. doi: 10.3389/fped.2019.00087. eCollection 2019.
MMA is a rare autosomal recessive disorder with the manifestation of recurrent and severe episodes of acute metabolic decompensation or a variety of long-term complications that require timely treatment. While conventional long-term medical and dietary management cannot prevent rapid progression of conditions in patients with severe complications, LT, or CKLT has become an option. We reviewed the literature for MMA patients undergoing LT/CKLT published since 2006, and data on metabolic decompensation status, protein dietary, neurological damage, renal insufficiency, and developmental delay before and after transplantations were compared to evaluate the clinical value of the procedure in the treatment of MMA. To date, some successful LTs/CKLT procedures have prolonged survival and resulted in better quality of life in patients (lowered urine/plasma MMA levels but still much higher than normal, reduced onset of metabolic stroke, occasional improved developmental delay, and relaxed protein diet), although these procedures cannot reverse neurological damage or thoroughly stop the progress of complications, such as renal dysfunction. LT is the only effective treatment for MMA patients with recurrent metabolic decompensation. However, it is still possible that neurological and renal damage remains irreversible. Metabolism-correcting medications should be administered even after surgery.
甲基丙二酸血症（MMA）是一种罕见的常染色体隐性疾病，表现为反复且严重的急性代谢失代偿发作或多种需要及时治疗的长期并发症。虽然传统的长期药物和饮食管理无法阻止严重并发症患者病情的快速进展，但肝移植（LT）或活体亲属供肝肝移植（CKLT）已成为一种选择。我们回顾了自2006年以来接受LT/CKLT的MMA患者的文献，并比较了移植前后代谢失代偿状态、蛋白质饮食、神经损伤、肾功能不全和发育迟缓的数据，以评估该手术在MMA治疗中的临床价值。迄今为止，一些成功的LT/CKLT手术延长了患者的生存期并改善了生活质量（尿/血浆甲基丙二酸水平降低但仍远高于正常水平，代谢性中风发作减少，发育迟缓偶尔有所改善，蛋白质饮食放宽），尽管这些手术无法逆转神经损伤或彻底阻止并发症的进展，如肾功能障碍。LT是治疗反复代谢失代偿的MMA患者的唯一有效方法。然而，神经和肾脏损伤仍有可能不可逆转。即使在手术后也应使用代谢纠正药物。
