Guibaud P, de Parscau L
Unité de Génétique et d'Etude des Maladies Métaboliques de l'Enfant.
Ann Gastroenterol Hepatol (Paris). 1988 Mar-Apr;24(2):69-74.
Hepatic glycogenosis, heterogeneous in their type, appear in children as an hepatomegaly discovered during manifestations of hypoglycemia and/or growth disorders, sometimes in the course of a systematic physical examination. A usually late puberty determines a transient aggravation of the height insufficiency. Persistence of a marked hepatomegaly and the development of lever adenomas are characteristic of type I glycogenosis. There, the metabolic imbalance (hyperlipoproteinemia and hyperuricemia, especially), lead to severe vascular and renal complications. Haematologic and sometimes infectious disorders may be added. In type III glycogenosis, the danger depends less on the liver fibrosis, usually minimal, than on the frequently associated cardio-vascular involvement. Type VI glycogenosis, usually have a favorable course. Current therapeutic progresses and a better care should result in a marked improvement of the evolution in type I and probably type III.
肝糖原贮积症类型多样,在儿童中表现为低血糖和/或生长障碍症状出现时发现的肝肿大,有时是在系统体格检查过程中发现。通常青春期发育延迟会导致身高不足的短暂加重。显著肝肿大的持续存在和肝腺瘤的发生是I型糖原贮积症的特征。在I型糖原贮积症中,代谢失衡(尤其是高脂蛋白血症和高尿酸血症)会导致严重的血管和肾脏并发症。还可能出现血液系统疾病,有时伴有感染性疾病。在III型糖原贮积症中,危险程度与其说是取决于通常程度较轻的肝纤维化,不如说是取决于常伴发的心血管受累情况。VI型糖原贮积症通常病程良好。当前的治疗进展和更好的护理应能显著改善I型糖原贮积症的病情发展,可能也会改善III型糖原贮积症的病情发展。