本文目的為全面瞭解嬰兒型龐貝氏症的健康狀況問題和環境因素等變項，以及酵素補充療法的效
果，並將搜尋所得之各變項與｢國際健康功能與身心障礙分類 - 兒童及青少年版｣(International Classification of Functioning, Disability and Health - Children and Youth Version，簡稱ICF-CY)各類碼相連結，以為建立嬰兒型龐貝氏症ICF-CY 核心組之參考。以系統性文獻回顧方法搜尋自2000 年至2009 年Medline、PubMed、CINAHL、Cochrane、CEPS 等資料庫；以龐貝氏症、症狀、酵素補充療法(enzyme
replacement therapy，簡稱ERT)等相關詞彙搜尋，納入研究對象含五歲以下之兒童且全文為英/中文文獻。共有20 篇文章描述嬰兒型龐貝氏症臨床特徵，其症狀共連結到24 個ICF-CY 身體功能和構造的二位碼、5 個活動和社會參與的一位碼和6 個環境因素的二位碼。從報告ERT 療效的13 篇文獻中，整理出13 個ICF-CY 身體功能和構造的二位碼、5 個活動和社會參與的一位碼和1 個環境因素的二位碼。文獻中描述嬰兒型龐貝氏症兒童的健康狀況及ERT 療效變項皆可連結到ICF-CY 之類碼，以心肺系統、神經肌肉系統、感覺系統、消化系統等身體功能和構造損傷描述較詳細，可連結到二位碼，學習、溝通、身體活動、自我照顧和人際互動等活動限制報告較不特定，僅可連結到一位碼，環境因素之描述更少。ERT 可有效地立即改善存活率、心肺和肌肉神經系統功能並增進患者的日常生活活動。然而，過去研究較少深入探討環境因素和活動限制之互動情形。據此，龐貝氏症之核心組有可能建立，然未來研究應全面探究嬰兒型龐貝氏症患者活動及其家庭狀況，和ERT 對其整體健康狀況的長期效果。

To set the core set of infantile Pompe disease in the future, the purpose of this study was to describe the health status problems and environmental factors and the effectiveness of ERT for children with infantile Pompe disease comprehensively and linked the symptoms to the categories of the International Classification of Functioning, Disability and Health - Children and Youth Version (ICF-CY). A systematic review has been conducted from the databases of Medline, PubMed, CINAHL, Cochrane and CEPS from 2000 to 2009. Key words were phrases related to Pompe disease, signs and symptoms, enzyme replacement therapy (ERT). Subjects
were under 5 years old. The clinical symptoms described by 20 articles could be linked to 24 second level categories in Body Function and Structure component, 5 first level categories in Activity and Participation component, and 6 second level categories in Environmental factors of ICF-CY. The outcomes of ERT reported by 13 articles could be linked to 13 second level categories in Body Function and Structure component, 5 first level categories in Activity and Participation component, and 1 second level category in Environmental factors.
All the health status and the outcome measures of the infantile Pompe disease could be linked to first level or second level categories of the ICF-CY. Children’s cardiopulmonary, neuromuscular, sensory, and digestive body function and structures were described more comprehensively than the limitations in their learning, communication, mobility, self care, and interpersonal activities. Less information were concerned about the environmental factors. ERT is effective on increasing survival rates, improving cardiopulmonary and neuromuscular functions as well as daily activities in short term. However, no article explored the interactions
between environmental factors and activity limitations. The establishment of core set in the Pompe disease is feasible. Future studies are needed to examine the whole health status and environmental conditions of Pompe
children and to investigate the long term effects of ERT on the health status and their families.