PDF(Pubmed)
Abstract：
BACKGROUND: 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.
CONCLUSIONS: 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.
CONCLUSIONS: Early diagnosis, multidisciplinary management and preventive measures are pivotal in MA patients to avoid recurrent AKI episodes and, consequently, to slow down CKD progression.
CONCLUSIONS: 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.
CONCLUSIONS: Early diagnosis, multidisciplinary management and preventive measures are pivotal in MA patients to avoid recurrent AKI episodes and, consequently, to slow down CKD progression.
摘要：
背景：没有高半胱氨酸尿（或孤立的MA）的甲基丙二酸酸中毒（MA）是一组罕见的遗传性代谢紊乱，导致甲基丙二酸（MMA）的积累，一种积聚在血液中的有毒分子，尿液,和脑脊液，引起急性和慢性并发症，包括代谢危机，急性肾损伤(AKI),慢性肾病（CKD）。详细案例说明：此处，我们报告了一例39岁男性MA和IV期CKD,继发于胃肠道感染的急性代谢失代偿.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。HD会议导致迅速的临床改善和缩短住院时间。
结论：MA患者的MMA积累会导致急性和危及生命的并发症，比如代谢失代偿，和长期并发症，如CKD，最终导致肾脏替代疗法（RRT）。文献报道的数据表明，总的来说,所有透析治疗(间歇性HD，连续HD,腹膜透析）可有效去除MMA。HD,特别是,在紧急情况下可以控制代谢危机，即使GFR>15mL/min。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以迅速受到MMA暴露的影响，即使在随访的第一年，肾功能也会下降，由于MMA产生减少和尿排泄增加,肝肾联合移植显示出更好的长期结果.
结论：早期诊断，多学科管理和预防措施对于MA患者避免复发性AKI发作至关重要，因此,减缓CKD进展。
结论：MA患者的MMA积累会导致急性和危及生命的并发症，比如代谢失代偿，和长期并发症，如CKD，最终导致肾脏替代疗法（RRT）。文献报道的数据表明，总的来说,所有透析治疗(间歇性HD，连续HD,腹膜透析）可有效去除MMA。HD,特别是,在紧急情况下可以控制代谢危机，即使GFR>15mL/min。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以迅速受到MMA暴露的影响，即使在随访的第一年，肾功能也会下降，由于MMA产生减少和尿排泄增加,肝肾联合移植显示出更好的长期结果.
结论：早期诊断，多学科管理和预防措施对于MA患者避免复发性AKI发作至关重要，因此,减缓CKD进展。
