Noone Damien, Riedl Magdalena, Atkison Paul, Avitzur Yaron, Sharma Ajay P, Filler Guido, Siriwardena Komudi, Prasad Chitra
Division of Nephrology, The Hospital for Sick Children, Toronto, Ontario, Canada.
Department of Paediatrics, University of Toronto, Toronto, Ontario, Canada.
Pediatr Transplant. 2019 Jun;23(4):e13407. doi: 10.1111/petr.13407. Epub 2019 Apr 11.
MMA is associated with chronic tubulointerstitial nephritis and a progressive decline in GFR. Optimal management of these children is uncertain. Our objectives were to document the pre-, peri-, and post-transplant course of all children with MMA who underwent liver or combined liver-kidney transplant in our centers.
Retrospective chart review of all cases of MMA who underwent organ transplantation over the last 10 years.
Five children with MMA underwent liver transplant (4/5) and combined liver-kidney transplant (1/5). Three were Mut and two had a cobalamin B disorder. Four of five were transplanted between ages 3 and 5 years. Renal dysfunction prior to transplant was seen in 2/5 patients. Post-transplant (one liver transplant and one combined transplant) renal function improved slightly when using creatinine-based GFR formula. We noticed in 2 patients a big discrepancy between creatinine- and cystatin C-based GFR calculations. One patient with no renal disease developed renal failure post-liver transplantation. Serum MMA levels have decreased in all to <300 μmol/L. Four patients remain on low protein diet, carnitine, coenzyme Q, and vitamin E post-transplant.
MMA is a complex metabolic disorder. Renal disease can continue to progress post-liver transplant and close follow-up is warranted. More research is needed to clarify best screening GFR method in patients with MMA. Whether liver transplant alone, continued protein restriction, or the addition of antioxidants post-transplant can halt the progression of renal disease remains unclear.
甲基丙二酸血症（MMA）与慢性肾小管间质性肾炎及肾小球滤过率（GFR）的进行性下降相关。对这些患儿的最佳管理尚不确定。我们的目的是记录在我们中心接受肝脏或肝肾联合移植的所有MMA患儿移植前、移植中和移植后的病程。
对过去10年中所有接受器官移植的MMA病例进行回顾性病历审查。
5例MMA患儿接受了肝脏移植（4/5）和肝肾联合移植（1/5）。3例为Mut型，2例患有钴胺素B障碍。5例中有4例在3至5岁之间接受移植。2/5的患者在移植前出现肾功能障碍。移植后（1例肝脏移植和1例联合移植），使用基于肌酐的GFR公式时肾功能略有改善。我们注意到2例患者基于肌酐和基于胱抑素C的GFR计算存在很大差异。1例无肾脏疾病的患者在肝脏移植后发生肾衰竭。所有患者的血清MMA水平均降至<300μmol/L。4例患者移植后继续采用低蛋白饮食、补充肉碱、辅酶Q和维生素E。
MMA是一种复杂的代谢紊乱疾病。肝脏移植后肾脏疾病可能会继续进展，因此需要密切随访。需要更多研究来明确MMA患者最佳的GFR筛查方法。单独进行肝脏移植、持续蛋白质限制或移植后添加抗氧化剂是否能阻止肾脏疾病的进展仍不清楚。
