White Mattie K, Sims Omar T, Eng Jason, Modaresi Esfeh Jamak
Department of Gastroenterology and Hepatology, Cleveland Clinic, Cleveland, OH.
ACG Case Rep J. 2024 Oct 10;11(10):e01526. doi: 10.14309/crj.0000000000001526. eCollection 2024 Oct.
Amish patients with propionic acidemia can have delayed presentations with rapid onset, severe cardiac decompensation despite metabolic control. Medical management is limited to strict low protein diet and correction of underlying catabolic triggers. Liver transplantation is indicated in pediatric patients with recurrent metabolic decompensation. There are limited reports of pediatric combined liver and heart transplantation. We present the first case of combined liver and heart transplantation in an Amish adult with newly diagnosed propionic acidemia and severe nonischemic dilated cardiomyopathy on advanced cardiac life support. Special considerations were necessary for close metabolic status monitoring and prevention of catabolic states.
患有丙酸血症的阿米什患者可能会出现延迟发病,尽管进行了代谢控制,但仍会迅速发作,出现严重的心功能不全。医疗管理仅限于严格的低蛋白饮食和纠正潜在的分解代谢诱因。对于反复出现代谢失代偿的儿科患者,建议进行肝移植。关于儿科肝心联合移植的报道有限。我们报告了首例在接受高级心脏生命支持的情况下,对一名新诊断为丙酸血症和严重非缺血性扩张型心肌病的成年阿米什患者进行肝心联合移植的病例。密切监测代谢状态和预防分解代谢状态需要特殊考虑。