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Alpha-1-antitrypsin Deficiency in a Young Adult: The First Case Report in Taiwan and an Epidemiological Review of Asia

年輕男性的甲1型抗胰蛋白脢缺乏症:台灣第一例病例報告及亞洲的流行病學的文獻回顧

摘要


甲1型抗胰蛋白酶缺乏症在台灣的盛行率不明而病例報告極為罕見,亞洲國家相較於西方國家的盛行率較低。我們報告一位18歲非抽煙的男性主訴運動時呼吸困難。根據影像學檢查、肺功能及甲1型抗胰蛋白脢的濃度,他被診斷為甲1型抗胰蛋白脢缺乏症引起的肺氣腫。這是台灣第一例發生在年輕男性甲1型抗胰蛋白脢缺乏症引起肺氣腫的病例報告。在亞洲,甲1型抗胰蛋白脢缺乏症非吸煙者之間的發生率及對形成肺氣腫的貢獻及預後需要進一步的研究。

並列摘要


The prevalence of Alpha-1-antitrypsin (α1AT) deficiency in Taiwan is not known as yet, since there are extremely rare case reports and the prevalence is normally lower among Asian countries than Western countries. We report an 18-year-old male non-smoker with the chief complaint of effort dyspnea. He was diagnosed as having α1AT deficiency-related emphysema, based on imaging studies, pulmonary function tests and the level of α1AT in the serum. This is the first case report of α1AT deficiency-related emphysema in a young adult in Taiwan. The incidence and contribution of α1AT deficiency to the development of chronic obstructive pulmonary disease among nonsmokers, and the prognosis, need further investigation in Asia.

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