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首页> 外文期刊>The Egyptian Journal of Hospital Medicine >Glycogen Storage Disease in Pediatric Population
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Glycogen Storage Disease in Pediatric Population

机译：儿科人群糖原贮积病

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Introduction: The pathway of glycogen metabolism is regulated by many hormones such as insulin, glucagon, and corticosteroids. Glycogen storage diseases (GSD) most commonly affect muscles, liver, or both and occur in each 20000 to 43000 live birth. They are classified into 12 subtypes, but types I, II, and IX are the most common. Methodology: We conducted this review using a comprehensive search of MEDLINE, PubMed, and EMBASE, from January 2001, through February 2017. The following search terms were used: glycogen storage diseases, Von Gierke disease, Pompe's disease, Cori Disease, Forbes disease, Andersen's disease, McArdle disease, neonatal hypoglycemia, neonatal hepatomegaly. Aim: In this review, we aim to study the genetic basis, diagnosis, presentation, and different management approach to various common types of glycogen storage diseases prevalent in pediatric population. Conclusion: There are no cures for any type of glycogen storage diseases presently. Most treatments are designed to control signs and symptoms. The overall goals are primarily avoiding hypoglycemia, hyperlactatemia, hyperuricemia, and hyperlipidemia. Liver transplantation should be deliberated for patients with GSD type IV and for other progressive hepatic types of GSDs in order to avoid hepatic failure or malignancy. More research must be carried out to develop newer and more effective ways of management.
机译：简介：糖原代谢的途径受许多激素（例如胰岛素，胰高血糖素和皮质类固醇）的调节。糖原储存疾病（GSD）最常见地影响肌肉，肝脏或两者，并且每发生2万至43000例活产都会发生。它们分为12个亚型，但I，II和IX类型最为常见。方法：从2001年1月至2017年2月，我们对MEDLINE，PubMed和EMBASE进行了全面检索，进行了此项评价。使用了以下检索词：糖原贮积病，冯·基尔克病，庞贝氏病，科里病，福布斯病，安徒生病，麦卡德病，新生儿低血糖症，新生儿肝肿大。目的：在本综述中，我们旨在研究儿童人群中常见的各种常见糖原贮积病的遗传基础，诊断，表现和不同的管理方法。结论：目前尚无治愈任何类型糖原贮积病的方法。大多数治疗旨在控制体征和症状。总体目标主要是避免低血糖，高乳酸血症，高尿酸血症和高脂血症。对于IV型GSD患者和其他进行性肝脏类型的GSD患者，应考虑进行肝移植，以避免肝功能衰竭或恶性肿瘤。必须开展更多研究以开发更新，更有效的管理方式。

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