Ferrari da Cruz Thais, Rufino Rogério, Lopes Agnaldo, Henrique Costa Cláudia
Bronchoscopy, HC UFPR, Curitiba, PR, Brazil
Pneumology, Rio de Janeiro State University, Rio de Janeiro, RJ, Brazil.
BMJ Case Rep. 2021 Mar 30;14(3):e239146. doi: 10.1136/bcr-2020-239146.
We describe three cases of female subjects (aged 16, 44 and 41 years) with no respiratory symptoms, who have alpha-1 antitripsyn mutation (PiSZ, PiZZ and PiZZ) and who performed traditional pulmonary function tests and the single breath nitrogen washout test. They still did not have chronic obstructive pulmonary disease (COPD) or any identifiable change in traditional pulmonary function tests but already have change in nitrogen washout tests. Alpha-1 antitrypsin deficiency is a genetic disorder associated with early-onset COPD. There is evidence that although patients who have well-preserved FEV may already have signs of emphysema associated with symptoms. Therefore, the nitrogen washout test is considered to have more sensitive outcomes than other pulmonary function tests for early investigation of small airways disease and could allow the monitoring pulmonary function and evaluating of therapeutic decision.
我们描述了三名无呼吸道症状的女性受试者（年龄分别为16岁、44岁和41岁），她们存在α-1抗胰蛋白酶突变（PiSZ、PiZZ和PiZZ），并进行了传统肺功能测试和单次呼吸氮洗脱试验。她们尚无慢性阻塞性肺疾病（COPD），传统肺功能测试也未发现任何可识别的变化，但氮洗脱试验已有变化。α-1抗胰蛋白酶缺乏症是一种与早发性COPD相关的遗传性疾病。有证据表明，尽管FEV保存良好的患者可能已经出现与症状相关的肺气肿体征。因此，对于早期检测小气道疾病，氮洗脱试验被认为比其他肺功能测试的结果更敏感，并且可以用于监测肺功能和评估治疗决策。
