Fernández-Gomez Beatriz, Menao-Guillén Sebastian, Fernandez Gonzalez Ayla, Arruebo Muñio Maria, Ramos Alvarez Monica, Inda Landaluce Mercedes, Castillo Arce Maria Angeles, Torralba-Cabeza Miguel Ángel
Faculty of Medicine, University of Zaragoza, 50009 Zaragoza, Spain.
Department of Biochemistry, "Lozano Blesa" University Hospital, 50009 Zaragoza, Spain.
Diagnostics (Basel). 2023 Aug 28;13(17):2778. doi: 10.3390/diagnostics13172778.
A deficiency in alpha-1 antitrypsin (AAT1) is a rare disorder that represents a significant health threat and early diagnostic priority issue. We investigated the usefulness of the serum protein electrophoresis (SPE) as an opportunistic screening tool for AAT1 deficiency.
For 6 months, all SPE carried out for any reasons were evaluated in our center. In those with less than 3% of alpha-1 globulins, AAT1 concentrations were studied. The gene was subsequently sequenced in those patients displaying concentrations below 100 mg/dL.
Out of the total, 14 patients (0.3%) were identified with low AAT1 concentrations, with 11 of them agreeing to enter the study. Of those, mutations in the gene were discovered in 10 patients (91%). Heterozygous mutations were detected in seven patients; three had the c.1096G>A mutation (p.Glu366Lys; PiZ), two had the c.863A>T mutation (p.Glu288Val; PiS), one had the c.221_223delTCT mutation (p.Phe76del; Pi*Malton), and the last one had the c.1066G>A (p.Ala356Thr) mutation, which was not previously described. Finally, one patient had the c.863A>T mutation in homozygosis, whereas two double heterozygous patients c.863A>T/c.1096G>A were detected.
An altered result in the concentration of AAT1 anticipates a mutation in the gene in a manner close to 91%. The relationship between a decrease in the alpha-1 globulin band of the SPE and an alteration in the AAT1 concentration is direct in basal states of health. The SPE is presented as a highly sensitive test for opportunistic screening of AAT1 deficiency.
α-1抗胰蛋白酶（AAT1）缺乏是一种罕见疾病，对健康构成重大威胁，也是早期诊断的重点问题。我们研究了血清蛋白电泳（SPE）作为AAT1缺乏机会性筛查工具的实用性。
在6个月的时间里，我们中心对因任何原因进行的所有SPE进行了评估。对于α-1球蛋白含量低于3%的患者，研究其AAT1浓度。随后对那些浓度低于100mg/dL的患者进行该基因测序。
总共14名患者（0.3%）被确定为AAT1浓度较低，其中11名同意参加研究。在这些患者中，10名（91%）发现该基因存在突变。7名患者检测到杂合突变；3名有c.1096G>A突变（p.Glu366Lys；PiZ），2名有c.863A>T突变（p.Glu288Val；PiS），1名有c.221_223delTCT突变（p.Phe76del；Pi*Malton），最后1名有c.1066G>A（p.Ala356Thr）突变，该突变此前未被描述。最后，1名患者为c.863A>T纯合突变，同时检测到2名c.863A>T/c.1096G>A双杂合患者。
AAT1浓度结果异常时，该基因发生突变的可能性接近91%。在健康基础状态下，SPE中α-1球蛋白带减少与AAT1浓度改变之间存在直接关系。SPE是一种对AAT1缺乏进行机会性筛查的高灵敏度检测方法。
