Pintus Giovanni, Vitturi Nicola, Carraro Gianni, Lenzini Livia, Gugelmo Giorgia, Fasan Ilaria, Madinelli Alberto, Burlina Alberto, Avogaro Angelo, Calò Lorenzo Arcangelo
Hypertension Unit, Department of Medicine-DIMED, Padova University Hospital, University of Padova, 35128 Padua, Italy.
Department of Clinical, Internal, Anesthesiological and Cardiovascular Sciences, Sapienza University of Rome, 00185 Rome, Italy.
J Clin Med. 2024 Jul 23;13(15):4304. doi: 10.3390/jcm13154304.
Methylmalonic Aciduria (MA) without homocystinuria (or isolated MA) is a group of rare inherited metabolic disorders which leads to the accumulation of methylmalonic acid (MMA), a toxic molecule that accumulates in blood, urine, and cerebrospinal fluid, causing acute and chronic complications including metabolic crises, acute kidney injury (AKI), and chronic kidney disease (CKD). Detailed Case Description: Herein, we report a case of a 39-year-old male with MA and stage IV CKD who experienced acute metabolic decompensation secondary to gastrointestinal infection. The patient underwent a single hemodialysis (HD) session to correct severe metabolic acidosis unresponsive to medical therapy and to rapidly remove MMA. The HD session resulted in prompt clinical improvement and shortening of hospitalization.
MMA accumulation in MA patients causes acute and life-threatening complications, such as metabolic decompensations, and long-term complications such as CKD, eventually leading to renal replacement therapy (RRT). Data reported in the literature show that, overall, all dialytic treatments (intermittent HD, continuous HD, peritoneal dialysis) are effective in MMA removal. HD, in particular, can be useful in the emergency setting to control metabolic crises, even with GFR > 15 mL/min. Kidney and/or liver transplantations are often needed in MA patients. While a solitary transplanted kidney can be rapidly affected by MMA exposure, with a decline in renal function even in the first year of follow-up, the combined liver-kidney transplantation showed better long-term results due to a combination of reduced MMA production along with increased urinary excretion.
Early diagnosis, multidisciplinary management and preventive measures are pivotal in MA patients to avoid recurrent AKI episodes and, consequently, to slow down CKD progression.
无同型胱氨酸尿症的甲基丙二酸血症（MA）（或孤立性MA）是一组罕见的遗传性代谢紊乱疾病，可导致甲基丙二酸（MMA）蓄积，MMA是一种有毒分子，会在血液、尿液和脑脊液中蓄积，引发急性和慢性并发症，包括代谢危机、急性肾损伤（AKI）和慢性肾脏病（CKD）。详细病例描述：在此，我们报告一例39岁患有MA和IV期CKD的男性患者，该患者因胃肠道感染继发急性代谢失代偿。患者接受了一次血液透析（HD）治疗，以纠正对药物治疗无反应的严重代谢性酸中毒，并迅速清除MMA。此次HD治疗使临床症状迅速改善，缩短了住院时间。
MA患者体内MMA蓄积会导致急性和危及生命的并发症，如代谢失代偿，以及CKD等长期并发症，最终导致肾脏替代治疗（RRT）。文献报道的数据表明，总体而言，所有透析治疗（间歇性HD、持续性HD、腹膜透析）在清除MMA方面均有效。特别是HD，即使肾小球滤过率（GFR）>15 mL/min，在紧急情况下控制代谢危机也可能有用。MA患者通常需要进行肾脏和/或肝脏移植。虽然单独移植的肾脏可能会迅速受到MMA暴露的影响，即使在随访的第一年肾功能也会下降，但肝肾联合移植由于MMA生成减少和尿排泄增加的综合作用，显示出更好的长期效果。
早期诊断、多学科管理和预防措施对MA患者至关重要，可避免复发性AKI发作，从而减缓CKD进展。
