PDF(Pubmed)
Abstract：
BACKGROUND: 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.
METHODS: 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 SERPINA1 gene was subsequently sequenced in those patients displaying concentrations below 100 mg/dL.
RESULTS: 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 SERPINA1 gene were discovered in 10 patients (91%). Heterozygous mutations were detected in seven patients; three had the c.1096G>A mutation (p.Glu366Lys; Pi*Z), two had the c.863A>T mutation (p.Glu288Val; Pi*S), 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.
CONCLUSIONS: An altered result in the concentration of AAT1 anticipates a mutation in the SERPINA1 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.
METHODS: 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 SERPINA1 gene was subsequently sequenced in those patients displaying concentrations below 100 mg/dL.
RESULTS: 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 SERPINA1 gene were discovered in 10 patients (91%). Heterozygous mutations were detected in seven patients; three had the c.1096G>A mutation (p.Glu366Lys; Pi*Z), two had the c.863A>T mutation (p.Glu288Val; Pi*S), 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.
CONCLUSIONS: An altered result in the concentration of AAT1 anticipates a mutation in the SERPINA1 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.
摘要：
背景：α-1抗胰蛋白酶（AAT1）缺乏是一种罕见的疾病，代表着重大的健康威胁和早期诊断的优先问题。我们调查了血清蛋白电泳（SPE）作为AAT1缺乏症的机会性筛查工具的有用性。
方法：6个月，我们中心对所有因任何原因进行的SPE进行了评估.在α-1球蛋白含量低于3%的人群中,研究了AAT1浓度。随后在那些显示浓度低于100mg/dL的患者中对SERPINA1基因进行测序。
结果：在总数中，14名患者（0.3%）被确定为低AAT1浓度，其中11人同意进入研究。其中,在10例患者(91%)中发现了SERPINA1基因突变.在7例患者中检测到杂合突变；其中3例具有c.1096G>A突变（p。Glu366Lys;Pi*Z),两个有c.863A>T突变(p.Glu288Val;Pi*S),其中一人具有c.221_223delTCT突变（p。Phe76del;Pi*Malton),最后一个有c.1066G>A(p.Ala356Thr)突变,这是以前没有描述的。最后,一名患者在纯合子中具有c.863A>T突变，而检测到两名双杂合子患者c.863A>T/c.1096G>A。
结论：AAT1浓度的改变结果预计SERPINA1基因的突变程度接近91%。在健康的基础状态下，SPE的α-1球蛋白带的减少与AAT1浓度的改变之间的关系是直接的。SPE被认为是对AAT1缺乏症的机会性筛查的高度敏感测试。
方法：6个月，我们中心对所有因任何原因进行的SPE进行了评估.在α-1球蛋白含量低于3%的人群中,研究了AAT1浓度。随后在那些显示浓度低于100mg/dL的患者中对SERPINA1基因进行测序。
结果：在总数中，14名患者（0.3%）被确定为低AAT1浓度，其中11人同意进入研究。其中,在10例患者(91%)中发现了SERPINA1基因突变.在7例患者中检测到杂合突变；其中3例具有c.1096G>A突变（p。Glu366Lys;Pi*Z),两个有c.863A>T突变(p.Glu288Val;Pi*S),其中一人具有c.221_223delTCT突变（p。Phe76del;Pi*Malton),最后一个有c.1066G>A(p.Ala356Thr)突变,这是以前没有描述的。最后,一名患者在纯合子中具有c.863A>T突变，而检测到两名双杂合子患者c.863A>T/c.1096G>A。
结论：AAT1浓度的改变结果预计SERPINA1基因的突变程度接近91%。在健康的基础状态下，SPE的α-1球蛋白带的减少与AAT1浓度的改变之间的关系是直接的。SPE被认为是对AAT1缺乏症的机会性筛查的高度敏感测试。
