社團法人臺灣臨床藥學會

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【藥學教育】麻煩症候群-概述與某國小之症狀普查結果
The Marfan Syndrome  General Introduction and an Investigation in an Elementary School
麻煩症候群、蜘蛛指、體染色體顯性遺傳性疾病、 Marfan syndrome, arachnodactyly, autosomal dominant heritable disorder
徐士傑Shih-Chieh Hsu
1國立台灣大學醫學院附設醫院雲林分院 藥劑部
麻煩症候群(亦有翻譯為馬凡氏症候群,又有一稱為「蜘蛛人症」),是一種影響結締組織如骨骼、肺、眼睛、心血管等器官系統的一種體顯性遺傳疾病。據估計在美國至少有廿萬人患有麻煩症候群或相關之結締組織異常。
在19世紀時,法國醫師Marfan的一位五歲女病童Gabrielle,有不成比例細長的四肢、肌肉發育不佳、異常彎曲的脊柱等症狀。1972年時以Marfan醫師的姓氏為此疾病的名稱。現今對此疾病之研究已經知道屬於體顯性遺傳,遺傳自雙親之一,不過約有四分之一的病患是自體基因突變造成。此病難以診斷,因為沒有特定的生化檢驗方式,而且不同患者個別症狀差異頗大;迄今仍未有確定的治療方式,不過運用Beta-blocker以及心臟外科手術,可以對幫助病患延長生命有所助益。若能及早發現並妥善規劃治療計劃,可以有效延長病患生命及改善生活品質。本文發表對某國小之普查結果,並對政府提出建議,能將相關可以檢出麻煩症候群症狀的體檢納入學校體檢政策中,以避免再度發生學童暴斃的憾事。
 
The Marfan syndrome is a heritable disorder of the connective tissue that affects many organ systems, including the skeleton, lungs, eyes, heart and blood vessels. The condition affects both men and women of any race or ethnic group. It is estimated that at least 200,000 people in the United States have the Marfan syndrome or a related connective tissue disorder.  In the 19th century (1896), a French physician named Antoine Marfan had a five-year-old female patient, Gabrielle, with long thin limbs, poor muscle development and an abnormally curved spine. Dr. Marfan's name became synonymous with patients affected with the same rare, genetic disorder in 1972. A single abnormal gene causes the Marfan syndrome. Usually, this gene is inherited from a parent who is also affected. Approximately one-quarter of the cases occur as a result of a spontaneous mutation. The Marfan syndrome is autosomal dominant, indicating that someone with the condition has a 50-50 chance that any offspring will inherit it.  The Marfan syndrome is difficult to diagnose because there is no specific laboratory test for the condition. In addition, characteristics of the disorder vary greatly among affected individuals. Most affected people do not have all of the possible signs and complications of the syndrome. An accurate diagnosis of the Marfan syndrome can be assessed after a complete physical examination that focuses on the systems affected by the disorder. Lifestyle adaptations, such as the avoidance of strenuous exercise and contact sports, are often necessary to reduce the risk of injury to the aorta. We suggested the government put the related physical examinations used for the diagnosis of the Marfan syndrome into the future policy.
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