Case Presentation

A 21-year-old male college student presented for a second opinion with low alpha-1 antitrypsin (AAT) levels and complaints of episodic dyspnea with wheezing and cough. He was a never smoker with a medical history of frequent respiratory tract infections in early childhood and allergy to dander, dust mites, peanuts, and eggs. There was no travel history outside of the continental United States. His mother had asthma. His symptoms were not controlled on inhaled corticosteroids and bronchodilators. His AAT genotype was found to be PI∗SZ, and augmentation therapy (with pooled human-plasma derived AAT) was recommended locally.

中文翻译：

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一名患有呼吸困难、喘息和咳嗽的 21 岁男子

案例展示

一名 21 岁的男大学生因 α-1 抗胰蛋白酶 (AAT) 水平低并主诉伴有喘息和咳嗽的发作性呼吸困难而提出第二意见。他从不吸烟，有儿童早期频繁呼吸道感染和对皮屑、尘螨、花生和鸡蛋过敏的病史。没有美国大陆以外的旅行历史。他的母亲患有哮喘。吸入皮质类固醇和支气管扩张剂无法控制他的症状。发现他的 AAT 基因型为 PI∗SZ，并在当地推荐了增强治疗（合并人血浆衍生的 AAT）。