- 期刊
A Retrospective Epidemiological and Etiological Study of Metabolic Disorders in Children with Cardiomyopathies
回溯性分析兒童心肌病變合併代謝異常之流行病學及病因
摘要
在年輕的族群中，有許多的先天性代謝異常疾病會造成心肌病變。因此在遺傳諮詢、疾病後續照顧與治療上，找出造成心肌病變的根本原因就極為重要。我們追溯性的分析了長庚兒童醫院過去六年中，發病年齡介於1-18歲間，五十八位臨床上診斷患有心肌病變的兒童。這些病人被分為兩大部分：原因已知(50%)和原因未明(50%)。在已知原因的病人中，31%的病人被診斷為先天性代謝異常。其中包括四位粒線體代謝異常疾病、一位原發性肉鹼缺乏症、三位第二型肝醣儲積症以及一位第一型黏多醣症。此外在這個研究分析中發現，有很大部分的心肌病變兒童(50%)並未找到造成疾病的根本原因；並且這部分的兒童亦未曾接受過適當的遺傳與代謝疾病篩檢。然而在造成兒童時期心肌病變的原因上，代謝疾病卻佔有很重要的角色。因此針對一個兒童時期心肌病變的病人，在排除了非遺傳因素造成的原因後，應當進行遺傳與代謝疾病的篩檢：包括血液串聯質譜儀檢查、尿液有機酸檢查、血液肉鹼濃度檢測與粒線體基因篩檢等。
並列摘要
Cardiomyopathies may be idiopathic or secondary to an underlying definable systemic disorder, especially in a young population. A number of inherited metabolic disorders will lead to hypertrophic or dilated cardiomyopathy. Identifying the metabolic etiologies of cardiomyopathy is important for genetic counseling and identification of appropriate therapeutic interventions. Fifty-eight children aged from 1 to 18 years were diagnosed as suffering from cardiomyopathy over six years. Cardiomyopathies (dilated, hypertrophic or restrictive) were confirmed by echocardiography together with extensive clinical and metabolic investigations. The patients could be divided into two groups, etiology known (50.0%) and idiopathic (50.0%). Among the definable underlying diseases, 31.0% were diagnosed as inherited metabolic disorders, including mitochondrial disorders (n=4), primary systemic carnitine deficiency (n=1), Pompe disease (n=3) and mucopolysaccharidosis (MPS) I (n=1). In this study, there was a large component of idiopathic cardiomyopathies (50.0%), and it is likely that a proportion of these ”unknowns” have a diagnosable disorder. Therefore, for cardiomyopathies in children, after exclusion of non-genetic causes, genetic studies and metabolic screening, such as tandem mass spectrometry, urine gas chromatography mass spectrometry, carnitine level and mitochondrial DNA screening, are recommended.