Liu Min, Sun Li-Ying
Department of Liver Transplantation Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
National Clinical Research Centre for Digestive Diseases, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
Front Pediatr. 2021 Feb 19;9:633822. doi: 10.3389/fped.2021.633822. eCollection 2021.
Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by glycogen-branching enzyme (GBE) deficiency, leading to accumulation of amylopectin-like glycogen that may damage affected tissues. The clinical manifestations of GSD IV are heterogeneous; one of which is the classic manifestation of progressive hepatic fibrosis. There is no specific treatment available for GSD IV. Currently, liver transplantation is an option. It is crucial to evaluate long-term outcomes of liver transplantation. We reviewed the published literature for GSD IV patients undergoing liver transplantation. To date, some successful liver transplantations have increased the quantity and quality of life in patients. Although the extrahepatic manifestations of GSD IV may still progress after transplantation, especially cardiomyopathy. Patients with cardiac involvement are candidates for cardiac transplantation. Liver transplantation remains the only effective therapeutic option for treatment of GSD IV. However, liver transplantation may not alter the extrahepatic progression of GSD IV. Patients should be carefully assessed before liver transplantation.
IV型糖原贮积病(GSD IV)是一种罕见的常染色体隐性疾病,由糖原分支酶(GBE)缺乏引起,导致类支链淀粉样糖原积累,可能损害受影响的组织。GSD IV的临床表现具有异质性;其中之一是进行性肝纤维化的典型表现。目前尚无针对GSD IV的特异性治疗方法。目前,肝移植是一种选择。评估肝移植的长期结果至关重要。我们回顾了已发表的关于接受肝移植的GSD IV患者的文献。迄今为止,一些成功的肝移植提高了患者的生活质量和数量。尽管GSD IV的肝外表现可能在移植后仍会进展,尤其是心肌病。有心脏受累的患者是心脏移植的候选者。肝移植仍然是治疗GSD IV的唯一有效治疗选择。然而,肝移植可能不会改变GSD IV的肝外进展。在进行肝移植之前,应对患者进行仔细评估。