d' A Semple P
Scott Med J. 1978 Oct;23(4):281-5. doi: 10.1177/003693307802300406.
Four families with alpha-1-antitrypsin deficiency have been identified. Of 7 homozygous subjects 5 smoked and had chest disease while the 2 non-smokers were unaffected. Productive cough was a feature in 4 of the 5 affected homozygotes and symptoms commenced earlier than is usual with chronic bronchitis and emphysema. Of 11 heterozygous subjects only 5 who smoked had symptomatic or laboratory evidence of obstructive airways disease, in each case less marked than that of their homozygous smoking relatives. Severely affected subjects were underweight, the degree of weight loss being related to the measured severity of airways disease. A survey of emphsematous patients screened for alpha-1-antitrypsin deficiency is described. The natural course and significance of this enzyme deficiency are examined with reference to previous literature.
已识别出四个患有α-1抗胰蛋白酶缺乏症的家族。在7名纯合子受试者中，5人吸烟并患有胸部疾病，而2名不吸烟者未受影响。5名受影响的纯合子中有4人出现咳痰，症状出现的时间比慢性支气管炎和肺气肿患者通常出现症状的时间更早。在11名杂合子受试者中，只有5名吸烟者有阻塞性气道疾病的症状或实验室证据，在每种情况下，其症状都比其吸烟的纯合子亲属轻。严重受影响的受试者体重过轻，体重减轻的程度与所测量的气道疾病严重程度相关。本文描述了一项对筛查α-1抗胰蛋白酶缺乏症的肺气肿患者的调查。参照先前的文献，研究了这种酶缺乏症的自然病程和意义。
