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首页> 外文期刊>European journal of pediatrics >Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I).
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Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I).

机译：糖原贮积病I型：诊断，管理，临床过程和结果。欧洲糖原贮积病I型研究（ESGSD I）的结果。

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摘要

Glycogen storage disease type I (GSD I) is a relatively rare metabolic disease and therefore, no metabolic centre has experience of large numbers of patients. To document outcome, to develop guidelines about (long-term) management and follow-up, and to develop therapeutic strategies, the collaborative European Study on GSD I (ESGSD I) was initiated. This paper is an descriptive analysis of data obtained from the retrospective part of the ESGSD I. Included were 231 GSD Ia and 57 GSD Ib patients. Median age of data collection was 10.4 years (range 0.4-45.4 years) for Ia and 7.1 years (0.4-30.6 years) for Ib patients. Data on dietary treatment, pharmacological treatment, and outcome including mental development, hyperlipidaemia and its complications, hyperuricaemia and its complications, bleeding tendency, anaemia, osteopenia, hepatomegaly, liver adenomas and carcinomas, progressive renal disease, height and adult height, pubertal development and bone maturation, school type, employment, and pregnancies are presented. Data on neutropenia, neutrophil dysfunction, infections, inflammatory bowel disease, and the use of granulocyte colony-stimulating factor are presented elsewhere (Visser et al. 2000, J Pediatr 137:187-191; Visser et al. 2002, Eur J Pediatr DOI 10.1007/s00431-002-1010-0). CONCLUSION: there is still wide variation in methods of dietary and pharmacological treatment of glycogen storage disease type I. Intensive dietary treatment will improve, but not correct completely, clinical and biochemical status and fewer patients will die as a direct consequence of acute metabolic derangement. With ageing, more and more complications will develop of which progressive renal disease and the complications related to liver adenomas are likely to be two major causes of morbidity and mortality.
机译：I型糖原贮积病（GSD I）是一种相对罕见的代谢性疾病，因此，没有一个代谢中心拥有大量患者的经验。为了记录结果，制定关于（长期）治疗和随访的指南以及制定治疗策略，发起了欧洲GSD I合作研究（ESGSD I）。本文是对从ESGSD I回顾部分获得的数据的描述性分析。其中包括231名GSD Ia和57名GSD Ib患者。 Ia的数据收集中位数年龄为10.4年（范围0.4-45.4岁），Ib患者的数据收集中位数年龄为7.1年（0.4-30.6岁）。饮食治疗，药物治疗和结果的数据，包括智力发育，高脂血症及其并发症，高尿酸血症及其并发症，出血倾向，贫血，骨质减少，肝肿大，肝腺瘤和癌，进行性肾脏疾病，身高和成年身高，青春期发育和介绍了骨骼的成熟度，学校类型，就业情况和怀孕情况。关于嗜中性白血球减少症，嗜中性白细胞功能障碍，感染，炎性肠病和使用粒细胞集落刺激因子的数据在其他地方有介绍（Visser等2000，J Pediatr 137：187-191; Visser等2002，Eur J Pediatr DOI 10.1007 / s00431-002-1010-0）。结论：I型糖原贮积病的饮食和药物治疗方法仍存在很大差异。强化饮食治疗将改善但不能完全纠正临床和生化状况，死于急性代谢紊乱的直接后果是更少的患者。随着年龄的增长，将出现越来越多的并发症，其中进行性肾脏疾病和与肝腺瘤有关的并发症可能是发病率和死亡率的两个主要原因。

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