糖原累积症的医学营养治疗:病例报告与文献综述（英文）

The Medical Nutritional Therapy for Glycogen Storage Diseases: Case Report and Literature Review

糖原累积症是一组由调节糖原分解和/或糖异生的酶缺乏而导致的遗传代谢病。根据欧洲数据显示,糖原累积症的发病率为0.04%~0.05%。由于此疾病发病率低以及临床表现不典型,因此需要更多的研究来明确糖原累积症的诊断和治疗。到目前为止,医学营养治疗已成为一种改善患者临床结局的有效措施。本文介绍四例糖原累积症患者的各种临床表现,包括低血糖、肝脏肿大、脾脏肿大以及生长迟缓结合检索到相关国内外文献,以期为内科医师及儿科医师提供针对于此病的标准化营养干预路径。

Glycogen storage diseases （GSDs） are a group of inherited metabolic diseases caused by inherited defects in one of enzymes in glycogenolysis or/and gluconeogenesis. The morbidity of GSDs ranges from 0.04% to 0.05%, according to European data. Since limited data are available, more studies are needed in diagnosis and treatment of GSDs. To date, medical nutritional therapy （MNT） has become an effective measure in improving the clinical outcome of GSDs patients. We reported 4 cases of GSDs with different manifestations, including hypoglycemia, hepatomegaly, splenomegaly and growth retardation. We also provided individualized nutritional interventions and literature review was conducted as well.