Department of Critical Liver Diseases, Liver Research Center, Beijing Friendship Hospital, Capital Medical University, No. 101 Lu Yuan Dong Road, Tong-Zhou District, Beijing, 110112, China.
Liver Transplantation Center, National Clinical Research Center for Digestive Diseases, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
World J Pediatr. 2024 Aug;20(8):809-821. doi: 10.1007/s12519-023-00780-0. Epub 2024 Jan 8.
Liver transplantation (LT) has been proposed as a viable treatment option for selected methylmalonic acidemia (MMA) patients. However, there are still controversies regarding the therapeutic value of LT for MMA. The systematic assessment of health-related quality of life (HRQoL)-targeted MMA children before and after LT is also undetermined. This study aimed to comprehensively assess the long-term impact of LT on MMA, including multiorgan sequelae and HRQoL in children and families.
We retrospectively evaluated 15 isolated MMA patients undergoing LT at our institution between June 2013 and March 2022. Pre- and post-transplant data were compared, including metabolic profiles, neurologic consequences, growth parameters, and HRQoL. To further assess the characteristics of the HRQoL outcomes in MMA, we compared the results with those of children with biliary atresia (BA).
All patients had early onset MMA, and underwent LT at a mean age of 4.3 years. During 1.3-8.2 years of follow-up, the patient and graft survival rates were 100%. Metabolic stability was achieved in all patients with liberalized dietary protein intake. There was a significant overall improvement in height Z scores (P = 0.0047), and some preexisting neurological complications remained stable or even improved after LT. On the Pediatric Quality of Life Inventory (PedsQL™) generic core scales, the mean total, physical health, and psychosocial health scores improved significantly posttransplant (P < 0.05). In the family impact module, higher mean scores were noted for all subscales post-LT, especially family function and daily activities (P < 0.01). However, the total scores on the generic core scales and transplant module were significantly lower (Cohen's d = 0.57-1.17) when compared with BA recipients. In particular, social and school functioning (Cohen's d = 0.86-1.76), treatment anxiety, and communication (Cohen's d = 0.99-1.81) were far behind, with a large effect size.
This large single-center study of the mainland of China showed an overall favorable impact of LT on isolated MMA in terms of long-term survival, metabolic control, and HRQoL in children and families. The potential for persistent neurocognitive impairment and inherent metabolic fragility requires long-term special care. Video Abstract (MP4 153780 KB).
肝移植（LT）已被提议作为治疗选择之一，用于某些甲基丙二酸血症（MMA）患者。然而，对于 LT 治疗 MMA 的治疗价值仍存在争议。LT 对 MMA 患儿健康相关生活质量（HRQoL）的系统评估也尚未确定。本研究旨在全面评估 LT 对 MMA 的长期影响，包括患儿及其家庭的多器官后遗症和 HRQoL。
我们回顾性评估了 2013 年 6 月至 2022 年 3 月期间我院接受 LT 的 15 例孤立性 MMA 患者。比较了移植前后的数据，包括代谢谱、神经后果、生长参数和 HRQoL。为了进一步评估 MMA 患者 HRQoL 结果的特征，我们将结果与胆道闭锁（BA）患儿的结果进行了比较。
所有患者均为早发型 MMA，LT 年龄平均为 4.3 岁。在 1.3-8.2 年的随访中，患者和移植物的存活率均为 100%。所有患者均通过自由蛋白饮食摄入实现了代谢稳定。身高 Z 评分总体显著改善（P = 0.0047），一些先前存在的神经并发症在 LT 后保持稳定甚至改善。在儿科生活质量量表（PedsQL™）通用核心量表上，移植后总分、生理健康和心理社会健康评分显著提高（P < 0.05）。在家庭影响模块中，LT 后所有子量表的平均分均较高，尤其是家庭功能和日常活动（P < 0.01）。然而，与 BA 受者相比，通用核心量表和移植模块的总分显著较低（Cohen's d = 0.57-1.17）。特别是社会和学校功能（Cohen's d = 0.86-1.76）、治疗焦虑和沟通（Cohen's d = 0.99-1.81）远远落后，效应量较大。
这项来自中国大陆的大型单中心研究表明，LT 对孤立性 MMA 的长期生存、代谢控制和患儿及其家庭的 HRQoL 具有总体有利影响。持续的神经认知障碍和固有代谢脆弱性的潜在风险需要长期的特殊护理。
