Division of Clinical Biochemistry and Immunology, Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First St SW, Rochester, MN 55905, USA.
Am J Clin Pathol. 2012 Sep;138(3):398-405. doi: 10.1309/AJCPMEEJK32ACYFP.
Laboratory evaluation of α(1)-antitrypsin (A1AT) deficiency involves measurement of circulating A1AT protein (quantitation) and characterization of A1AT genetic polymorphisms (phenotyping or genotyping). This study compared adult and pediatric A1AT reference ranges in patients with nondeficiency alleles and examined A1AT concentrations in multiple other phenotypes. A1AT phenotype and quantitation were retrospectively collected on adult (n = 21,444) and pediatric (n = 2,469) samples that were submitted for laboratory evaluation of A1AT deficiency. The 95% reference ranges for normal adult and pediatric populations with the M/M phenotype were determined to be 100 to 273 mg/dL (18.4-50.2 μmol/L) and 93 to 251 mg/dL (17.1-46.2 μmol/L), respectively (P < .0001). Decreased concentrations of A1AT correlated with heterozygosity and homozygosity for the S and Z alleles in both the adult and pediatric groups. Other rare alleles, such as I, were also associated with decreased concentrations of A1AT, particularly in the context of a Z allele, and may warrant monitoring for symptoms of deficiency.
实验室评估 α(1)-抗胰蛋白酶（A1AT）缺乏症涉及循环 A1AT 蛋白的测量（定量）和 A1AT 遗传多态性的特征（表型或基因型）。本研究比较了非缺陷等位基因患者的成人和儿科 A1AT 参考范围，并检查了多种其他表型的 A1AT 浓度。对提交进行 A1AT 缺乏症实验室评估的成人（n = 21,444）和儿科（n = 2,469）样本进行了回顾性 A1AT 表型和定量收集。确定 M/M 表型正常成人和儿科人群的 95%参考范围分别为 100 至 273 mg/dL（18.4-50.2 μmol/L）和 93 至 251 mg/dL（17.1-46.2 μmol/L）（P <.0001）。A1AT 浓度降低与成人和儿科组中 S 和 Z 等位基因的杂合性和纯合性相关。其他罕见等位基因，如 I，也与 A1AT 浓度降低相关，特别是在 Z 等位基因的情况下，可能需要监测缺乏症状。
