Abstract：
Propionic (PA) and methylmalonic aciduria (MMA) share many clinical similarities, which include the risk of acute metabolic encephalopathies, and some long-term complications, such as optic neuropathy, pancreatic involvement, developmental disability, and similar management approaches, but they also represent distinct clinical and biochemical entities. In the severe forms of PA and MMA, most long-term complications cannot be prevented with conventional clinical management. Organ transplantation represents a form of partial enzyme replacement to improve the long-term outlook for these disorders. There is evidence that early liver transplant in both disorders greatly improves metabolic stability and reduces the risk of long-term complications. For MMA, early liver transplant reduces methylmalonic acid levels which in turns reduces its effects on kidneys, and therefore slows progression of chronic kidney disease. However, established organ damage cannot be reversed. For patients with MMA who present with chronic kidney disease, consideration should be given for combined liver and kidney transplants. Transplantation in PA and MMA carries a high risk of complications and requires highly specialised pre-operative and peri-operative management. Involvement of a multidisciplinary team is essential and should include metabolic team, nephrologist, hepatologist, hepatobiliary and renal transplant surgeons, anaesthesiologists, cardiologists, intensive care team, dieticians and specialist nurses. These patients require life-long multidisciplinary follow-up. There is increasing evidence in the literature on excellent short to medium-term patient and allograft survival following transplantation when patients are managed by a multidisciplinary team in a specialist centre. Improved early diagnosis and reductions in transplant-related mortality and morbidity have allowed early transplantation to be used electively to further improve the outcome.
摘要：
丙酸（PA）和甲基丙二酸尿症（MMA）具有许多临床相似性，其中包括急性代谢性脑病的风险，一些长期并发症，比如视神经病变，胰腺受累,发育障碍,和类似的管理方法，但它们也代表不同的临床和生化实体。在严重的PA和MMA形式中，大多数长期并发症不能通过常规临床治疗来预防.器官移植代表了部分酶替代的一种形式，以改善这些疾病的长期前景。有证据表明，这两种疾病的早期肝移植大大提高了代谢稳定性，降低了长期并发症的风险。对于MMA，早期肝移植可降低甲基丙二酸水平，从而降低其对肾脏的影响，从而减缓慢性肾脏疾病的进展。然而,既定的器官损害是无法逆转的。对于患有慢性肾病的MMA患者，应考虑肝肾联合移植。PA和MMA的移植具有很高的并发症风险，并且需要高度专业化的术前和围手术期管理。多学科团队的参与至关重要，应该包括代谢团队，肾脏科医生,肝病专家,肝胆和肾脏移植外科医生，麻醉师,心脏病学家,重症监护小组,营养师和专科护士。这些患者需要终身的多学科随访。文献中越来越多的证据表明，当患者由专科中心的多学科团队管理时，移植后的短期至中期患者和同种异体移植物存活良好。早期诊断的改善和移植相关死亡率和发病率的降低使得早期移植可以选择性地用于进一步改善结果。本文受版权保护。保留所有权利。
