Jang Jae Guk, Oh Seak Hee, Kim Yu Bin, Kim Seo Hee, Yoo Han-Wook, Lee Beom Hee, Namgoong Jung-Man, Kim Dae Yeon, Kim Ki-Hun, Song Gi-Won, Moon Deok-Bog, Hwang Shin, Lee Sung-Gyu, Kim Kyung Mo
Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
Department of Pediatric Surgery, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.
Pediatr Gastroenterol Hepatol Nutr. 2021 May;24(3):288-294. doi: 10.5223/pghn.2021.24.3.288. Epub 2021 May 4.
Despite aggressive medical and nutritional management, patients with methylmalonic acidemia (MMA) often suffer from multi-organ damage. Early deceased donor liver transplantation (DDLT) has emerged as an intervention to prevent disease progression. We investigated the efficacy of living donor LT (LDLT) with a potential carrier of MMA and a small volume of graft in patients with MMA as an alternative to DDLT.
Of five patients (three male, two female; median age 5.7 years; range, 1.3-13.7 years), four underwent carrier LDLT, while one underwent non-carrier auxiliary LDLT. All patients received pre- and post-LT continuous renal replacement therapy and were provided with minimal restriction diet according to serum MMA level after LT. MMA levels in the serum and urine, the incidence of metabolic crisis, and clinical findings before and after LT were compared.
The survival rate was 100% during 2.2 years of follow up period after LT. In all five cases, MMA titer in the serum after transplantation decreased with less restrictive diet. Metabolic crisis was not observed during the follow-up period. In addition, no patient showed progression of severe renal impairment requiring hemodialysis. Progression of delayed cognitive development was not observed. Social functioning with improved neuropsychiatric development was observed.
This study showed that LDLT achieved improved quality of life with less restrictive diet, therefore it could be a feasible alternative option to DDLT for the treatment of patients with MMA, even with an auxiliary LT.
尽管采取了积极的医学和营养管理措施，但甲基丙二酸血症（MMA）患者仍常遭受多器官损害。早期尸体供肝移植（DDLT）已成为一种预防疾病进展的干预措施。我们研究了以MMA潜在携带者作为供体且移植肝体积较小的活体肝移植（LDLT）在MMA患者中作为DDLT替代方案的疗效。
5例患者（3例男性，2例女性；中位年龄5.7岁；范围1.3 - 13.7岁）中，4例行携带者LDLT，1例行非携带者辅助LDLT。所有患者在肝移植前后均接受连续性肾脏替代治疗，并根据肝移植后血清MMA水平给予最低限度限制饮食。比较了肝移植前后血清和尿液中的MMA水平、代谢危机发生率及临床结果。
肝移植后2.2年的随访期内生存率为100%。在所有5例患者中，移植后血清中的MMA滴度随着饮食限制减少而降低。随访期间未观察到代谢危机。此外，没有患者出现需要血液透析的严重肾功能损害进展。未观察到延迟性认知发育进展。观察到神经精神发育改善后的社会功能。
本研究表明，LDLT通过较少的饮食限制提高了生活质量，因此即使是辅助性肝移植，它也可能是治疗MMA患者的DDLT的可行替代方案。
