α1-Antitrypsin deficiency in 26-year-old subjects -: Lung, liver, and protease/protease inhibitor studies
α1-Antitrypsin deficiency in 26-year-old subjects -: Lung, liver, and protease/protease inhibitor studies
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DOI：
10.1378/chest.128.4.2076
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发表时间：
2005-10-01
期刊：
影响因子：
9.6
通讯作者：
Sveger, T
中科院分区：
文献类型：
--
作者：
Piitulainen, E;Carlson, J;Sveger, T
背景资料：前瞻性随访了一组出生时患有α 1-抗胰蛋白酶（AAT）缺乏症的个体的肺部和肝脏疾病的临床和生化体征。目的：在26岁时，重点关注临床健康、肺和肝功能检查以及蛋白酶/抗蛋白酶平衡的血浆标志物。儿童早期环境和症状的影响也studied.Methods：符合条件的个人是26岁的主题与AAT缺乏症（PiZ，n = 122; PiZ n = 2;皮斯/S-，n = 53）和对照组（PiMM，n = 44）。原始AAT缺陷的科目，119完成了临床检查和134回答了questionnaire.Results：呼吸道症状的患病率没有差异之间的PiZ和SZ组。16%的PiZ受试者和14%的皮斯受试者患有哮喘。4名当前吸烟者（67%）和22%的既往吸烟者/从不吸烟者报告了反复喘息（p = 0.03）。PiZ、SZ（5%为吸烟者）和MM个体（均为非吸烟者）之间的FEV 1或FEV 1/FVC比值无差异。与其他PiZ受试者相比，新生儿胆汁淤积症PiZ受试者的FEV 1/FVC比值降低（p = 0.02）。AAT缺乏的2岁时复发性喘息患者在26岁时FEV 1/FVC比值降低（p = 0.025）。没有人有肝病的临床症状。6%的PiZ受试者和9%的皮斯受试者的血清丙氨酸氨基转移酶略有升高; 7%的PiZ受试者和4%的皮斯受试者的γ-谷氨酰转移酶检测结果异常。PiZ和SZ个体的血浆白蛋白降低（p = 0.0002）。与PiMM受试者相比，PiZ和SZ受试者的分泌性白细胞蛋白酶抑制剂（SLPI）增加（p = 0.0001）。与PiMM个体相比，PiZ受试者（p = 0.0004）和皮斯受试者（p = 0.001）中的神经元脂质运载蛋白减少。弹性蛋白酶/AAT复合物的浓度较低AAT缺陷的科目（p = 0.0001）。结论：26岁的PiZ和SZ个人（5%吸烟者）有正常的肺功能测试结果，和4%至9%有边际偏差的肝脏测试结果。SLPI和中性粒细胞脂质运载蛋白（中性粒细胞活性的标志物）的分析表明AAT缺乏状态的代偿性变化。
Background: Clinical and biochemical signs of lung and liver disease have been followed prospectively in a birth cohort of individuals with alpha(1)-antitrypsin (AAT) deficiency.Objective: At age 26 years, the focus was on clinical health, lung and liver function tests, and plasma markers of the protease/antiprotease balance. The effect of early childhood environment and symptoms was also studied.Methods: Eligible individuals were 26-year-old subjects with AAT deficiency (PiZ, n = 122; PiZ n = 2; PiSZ/S-, n = 53) and control subjects (PiMM, n = 44). Of the original AAT-deficient subjects, 119 completed the clinical examination and 134 answered the questionnaire.Results: The prevalence of respiratory symptoms did not differ between the PiZ and SZ groups. Sixteen percent of PiZ and 14% of PiSZ subjects had asthma. Four current smokers (67%) and 22% of ex-smokers/never-smokers reported recurrent wheezing (p = 0.03). No difference in FEV1 or FEV1/FVC ratio was found between the PiZ, SZ (5% being smokers), and MM individuals (all nonsmokers). A decreased FEV1/FVC ratio was found in PiZ subjects with neonatal cholestasis, compared to remaining PiZ subjects (p = 0.02). Recurrent wheezers at age 2 years with AAT deficiency had decreased FEV1/FVC ratio (p = 0.025) at age 26 years. None had clinical symptoms of liver disease. Six percent of PiZ and 9% of PiSZ subjects had a marginal increase of serum alanine aminotransferase; 7% of PiZ and 4% of PiSZ had abnormal gamma-glutamyl transferase test results. The PiZ and SZ individuals had decreased plasma albumin (p = 0.0002). Secretory leukocyte protease inhibitor (SLPI) was increased in PiZ and SZ subjects compared to PiMM subjects (p = 0.0001). Neutrophil lipocalin was decreased in PiZ subjects (p = 0.0004) and PiSZ subjects (p = 0.001) compared to PiMM individuals. The elastase/AAT complex concentration was lower in AAT-deficient subjects (p = 0.0001).Conclusion: Twenty-six-year-old PiZ and SZ individuals (5% smokers) had normal lung function test results, and 4 to 9% had marginal deviations in liver test results. Analyses of SLPI and neutrophil lipocalin, a marker of neutrophil activity, indicate compensatory changes in the AAT-deficiency state.