de Faria Elisangela Jacinto, de Faria Isabel Cristina Jacinto, Alvarez Alfonso E, Ribeiro José D, Ribeiro Antonio F, Bertuzzo Carmen S
Departamento de Genética, Faculdade de Ciências Médicas, Universidade Estadual de Campinas (UNICAMP), Campinas, São Paulo, Brazil.
J Pediatr (Rio J). 2005 Nov-Dec;81(6):485-90. doi: 10.2223/JPED.1423.
To ascertain the distribution of alpha 1 antitrypsin genotypes and correlate it with the severity of pulmonary disease in patients with cystic fibrosis.
A clinical and laboratory cross sectional study of 70 patients at the Universidade Estadual de Campinas teaching hospital. Cystic fibrosis diagnoses was confirmed by both clinical and laboratory methods. The severity of cystic fibrosis was evaluated by Shwachman score. All the patients were tested for the presence of S and Z alleles for alpha 1 antitrypsin deficiency using polymerase chain reaction.
Nine (12.8%) patients were heterozygous for S or Z alleles or the heterozygote compound (SZ). No significant differences were found in clinical severity of Cystic fibrosis between genotypes of alpha 1 antitrypsin. No significant differences were found when the patients were divided according to the presence or absence of the DeltaF508 mutation.
In this study, the first undertaken in Brazil into the association of alpha 1 antitrypsin deficiency and cystic fibrosis, we did not find an association between the deficiency and cystic fibrosis severity.
确定α1抗胰蛋白酶基因型的分布，并将其与囊性纤维化患者肺部疾病的严重程度相关联。
对坎皮纳斯州立大学教学医院的70名患者进行临床和实验室横断面研究。通过临床和实验室方法确诊囊性纤维化。采用Shwachman评分评估囊性纤维化的严重程度。使用聚合酶链反应检测所有患者是否存在α1抗胰蛋白酶缺乏的S和Z等位基因。
9名（12.8%）患者为S或Z等位基因杂合子或杂合子复合（SZ）。α1抗胰蛋白酶基因型之间囊性纤维化的临床严重程度无显著差异。根据是否存在DeltaF508突变对患者进行分组时，未发现显著差异。
在巴西首次进行的这项关于α1抗胰蛋白酶缺乏与囊性纤维化关联的研究中，我们未发现该缺乏与囊性纤维化严重程度之间存在关联。
