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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">Normal alpha-1-antitrypsin &#40;AAT&#41; alleles&#44; present in 85&#37;&#8211;90&#37; of individuals&#44; are called M&#44; and the most common deficient alleles&#44; S and Z &#40;frequencies&#58; 10 and 1&#46;7&#37; of the Spanish population&#44; respectively&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> Patients homozygous for the M&#44; S and Z alleles express around 100&#44; 40 and 15&#37; of serum AAT&#44; respectively&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">Severe AAT deficiency&#44; defined as serum levels below 35&#37; of the mean expected value&#44; is a rare condition&#44; generally associated with PI&#42;ZZ homozygotes and much less frequently with combinations of Z&#44; S&#44; rare and null alleles&#46; However&#44; in recent years&#44; the Spanish AAT Deficiency Registry &#40;REDAAT&#41; laboratory has detected rare and null alleles in 1&#46;6&#37; of cases<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> &#40;a rate comparable with that found in Italy&#44; Switzerland&#44; Germany and the USA&#41;&#44;<a class="elsevierStyleCrossRefs" href="#bib0020"><span class="elsevierStyleSup">4&#44;5</span></a> mostly Mmalton&#44; but also Mheerlen&#44; Nullclayton&#44; Nullbellingham&#44; Mvhebron and Ybarcelona&#44; among others&#46;<a class="elsevierStyleCrossRefs" href="#bib0030"><span class="elsevierStyleSup">6&#8211;8</span></a></p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Case report</span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Case 1</span><p id="par0015" class="elsevierStylePara elsevierViewall">The first patient was a 47-year-old woman&#44; non-smoker&#44; with essential hypertension&#44; recurrent bronchitis since age 25&#44; and exertional dyspnea in the last 3 years&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">Her spirometry was normal &#40;FVC 96&#37;&#44; FEV<span class="elsevierStyleInf">1</span> 105&#37;&#44; FEV<span class="elsevierStyleInf">1</span>&#47;FVC 84&#41;&#44; but her carbon monoxide diffusing capacity &#40;DLCO&#41; and transfer coefficient &#40;KCO&#41; were 68 and 61&#37; of their respective theoretical values&#46; Chest computed tomography &#40;CT&#41; showed an accentuated bronchial pattern with no signs of bronchiectasis or emphysema&#46; Liver function tests were normal&#46; The serum AAT concentration was 73&#46;7<span class="elsevierStyleHsp" style=""></span>mg&#47;dL &#40;reference values&#58; 103&#8211;200&#41;&#44; consistent with partial AAT deficiency&#44; but the phenotype labeled as PI&#42;MM did not agree with the AAT concentrations&#46; It was therefore decided to perform gene sequencing of the AAT in peripheral blood&#44; in which a PI&#42;Nullmattawa allele was detected&#46; This mutation is characterized by the insertion of a nucleotide within the coding region of exon 5&#44; and results in a frameshift that creates a premature stop signal at position 376 &#40;p&#46;Leu353PhefsX24&#41;&#46; This finally translates into a very unstable truncated protein that is degraded inside the hepatocyte and is undetectable in serum<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">9</span></a> &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0025" class="elsevierStylePara elsevierViewall">The second allele of the patient contained a normal variant in exon 5&#44; consisting of a substitution of a cytosine &#40;C&#41; for an adenine &#40;A&#41; in nucleotide 1200 of the cDNA&#44; generating the replacement of a glutamic acid &#40;Glu&#41; by an aspartate &#40;Asp&#41; in codon 400 &#40;c&#46; 1200A&#62;C&#47;p&#46;Glu400Asp&#41;&#44; which corresponded to an M3 allele&#46; Therefore&#44; this is a PI&#42;M3Nullmattawa heterozygous genotype&#44; with moderately reduced serum AAT levels&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Case 2</span><p id="par0030" class="elsevierStylePara elsevierViewall">Another carrier of the Nullmattawa allele was identified from the REDAAT database&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">The patient was a 67-year-old woman with a history of pleuro-pulmonary tuberculosis&#44; with documented bacteriological cure&#46; She suffered frequent respiratory infections&#46; Functional parameters were consistent with severe airway obstruction &#40;FEV<span class="elsevierStyleInf">1</span>&#58; 620<span class="elsevierStyleHsp" style=""></span>ml and FVC&#58; 1280<span class="elsevierStyleHsp" style=""></span>ml&#44; 22&#37; and 39&#37; of the theoretical values&#44; respectively&#41;&#46; High resolution computed tomography &#40;CT&#41; showed diffuse centrilobular and paraseptal emphysema and diffuse cylindrical bronchiectasis&#46; No result indicating liver involvement was detected at any time&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">Her serum AAT concentrations were 43<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#46; IEF suggested a PI&#42;MM phenotype&#44; but as it did not correspond with the serum AAT concentrations&#44; a genetic study was performed&#46; This detected a PI&#42;Mmalton allele &#40;deletion of residue 52&#44; p&#46;Phe52del&#41;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">11</span></a> and a PI&#42;Nullmattawa allele&#44; the combination of which explained the patient&#39;s low serum AAT concentrations&#46;</p></span></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Discussion</span><p id="par0045" class="elsevierStylePara elsevierViewall">The exceptional nature of the null alleles &#40;estimated prevalence 100&#8211;200 times lower than the Z alleles&#41; precludes us from having precise knowledge of their clinical impact and real incidence&#46; Nevertheless&#44; it is important to take them into account&#44; as they can create diagnostic confusion if genomic studies are not performed&#46;</p><p id="par0050" class="elsevierStylePara elsevierViewall">The Mmalton allele &#40;also known as Mcagliari and Mnichinan&#41; was first described in 1987 and&#44; like the Z gene&#44; produces a poorly folded protein&#46; Around 80&#37;&#8211;90&#37; of this variant polymerizes in the hepatocyte without being secreted into the blood&#44; where it expresses levels less than 15&#37; when in homozygosity&#46; It is associated with a high risk of pulmonary emphysema and liver disease&#46;<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">11&#44;12</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">The Mattawa allele &#40;and in general any null allele&#41; codes for a truncated protein&#44; with major conformational changes&#44; which is degraded intracellularly without having the opportunity to aggregate&#44; and hence expresses undetectable serum AAT concentrations&#46; This means that homozygotes have a very high risk of emphysema&#44; but not of liver disease&#46;</p><p id="par0060" class="elsevierStylePara elsevierViewall">In conclusion&#44; in our patients&#44; the discrepancy between the IEF phenotype and the serum AAT concentrations led us to suspect the existence of rare alleles&#46; Molecular analysis of the gene finally provided the correct diagnosis&#44; as stated in the recommendations&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Conflict of Interest</span><p id="par0065" class="elsevierStylePara elsevierViewall">The authors declare no conflict of interest&#46;</p></span></span>"
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            1 => "Mattawa"
            2 => "Spanish Registry of patients with alpha-1-antitrypsin deficiency"
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            0 => "D&#233;ficit de alfa-1-antitripsina"
            1 => "Mattawa"
            2 => "Registro Espa&#241;ol de pacientes con d&#233;ficit de alfa-1-antitripsina"
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        "resumen" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">The most common deficiency alleles for alpha-1-antitrypsin deficiency &#40;AATD&#41; are Pi&#42;S and Pi&#42;S&#44; but there are also other deficiency variants&#46;</p><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">This case report describes the first two cases of AATD detected in Spain resulting from the combination of a null Mattawa allele with a normal PI&#42;M&#44; and a rare Mmalton&#46;</p><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Both cases were initially diagnosed as Pi&#42;MM by isoelectric focusing &#40;IEF&#41;&#44; but the low serum AAT values led us to suspect the existence of rare deficiency alleles that were undetectable using this technique&#44; and to performing molecular analysis of the gene&#44; which provided the correct diagnosis&#46;</p><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Inconsistencies between serum AAT values and the phenotype should make one suspect the existence of one of these rare alleles&#46;</p>"
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        "resumen" => "<p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Los alelos deficitarios m&#225;s frecuentes son los Pi&#42;S y Pi&#42;Z&#44; pero existen tambi&#233;n otras variantes deficientes&#46;</p><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">En la presente nota cl&#237;nica se describen los 2 primeros casos detectados en Espa&#241;a de d&#233;ficit de alfa-1-antitripsina &#40;DAAT&#41;&#44; resultante de la combinaci&#243;n de un alelo nulo Mattawa con un normal PI&#42;M y con un raro Mmalton&#46;</p><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Ambos casos fueron inicialmente diagnosticados como Pi&#42;MM por isoelectroenfoque &#40;IEE&#41;&#44; pero los valores s&#233;ricos bajos de AAT hicieron sospechar la existencia de alelos deficientes infrecuentes indetectables por IEE&#44; por lo que se realiz&#243; un an&#225;lisis molecular del gen que proporcion&#243; el diagn&#243;stico correcto&#46;</p><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">Las incoherencias entre los valores s&#233;ricos de AAT y el fenotipo deben hacer sospechar la existencia de uno de estos alelos infrecuentes&#46;</p>"
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        "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as&#58; Lara B&#44; Mart&#237;nez-Delgado B&#44; Torres ML&#44; Mar&#237;n-Arguedas S&#44; Bustamante A&#44; Miravitlles M&#46; D&#233;ficit de alfa-1-antitripsina asociado a la variante Matawa&#46; Arch Bronconeumol&#46; 2013&#59;49&#58;548&#8211;550&#46;</p>"
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          "en" => "<p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">Sequence corresponding to exon 5 SERPINA1&#46; &#40;A&#41; Normal sequence&#46; &#40;B&#41; Sequence corresponding to the patient&#44; which shows insertion of a thymine &#40;T&#41; instead of an adenine &#40;A&#41; at codon 376 in exon 5 of heterozygosity for the PI-Mattawa allele&#46; The SERPINA1 gene coding sequence &#40;exons 2&#8211;5&#41; was analyzed using previously described primers for exons 3&#8211;5 and 5&#8242;ACGTGGTGTCAATCCCTGATCACTG3&#8242; Ex2F primers and ex2R 5&#8242;TATGGGAACAGCTGG3&#8242; for exon 2&#44; with reference to the comparative SERPINA1&#95;Transcript&#95;ENST00000440909&#46;</p>"
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Case report
Alpha-1-Antitrypsin Deficiency Associated With the Mattawa Variant
Déficit de alfa-1-antitripsina asociado a la variante Matawa
Beatriz Laraa,
Corresponding author
beat1135@gmail.com

Corresponding author.
, Beatriz Martínez-Delgadob, Maria Luisa Torresc, Sandra Marín-Arguedasd, Ana Bustamantee, Marc Miravitllesf
a Servicio de Neumología, Hospital Universitario Arnau de Vilanova, Lleida, Spain
b Unidad de Genética Molecular, Área de Genética Humana, Instituto de Investigación en Enfermedades Raras, Instituto de Salud Carlos III, Madrid, Spain
c Servicio de Neumología, Complexo Hospitalario Universitario de Vigo, Vigo, Pontevedra, Spain
d Servicio de Neumología, Hospital Dos de Maig, Barcelona, Spain
e Servicio de Neumología, Hospital de Sierrallana, Torrelavega, Cantabria, Spain
f Servicio de Neumología, Hospital Universitario Vall d’Hebron, Barcelona, Spain
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          "en" => "<p id="spar0045" class="elsevierStyleSimplePara elsevierViewall">Sequence corresponding to exon 5 SERPINA1&#46; &#40;A&#41; Normal sequence&#46; &#40;B&#41; Sequence corresponding to the patient&#44; which shows insertion of a thymine &#40;T&#41; instead of an adenine &#40;A&#41; at codon 376 in exon 5 of heterozygosity for the PI-Mattawa allele&#46; The SERPINA1 gene coding sequence &#40;exons 2&#8211;5&#41; was analyzed using previously described primers for exons 3&#8211;5 and 5&#8242;ACGTGGTGTCAATCCCTGATCACTG3&#8242; Ex2F primers and ex2R 5&#8242;TATGGGAACAGCTGG3&#8242; for exon 2&#44; with reference to the comparative SERPINA1&#95;Transcript&#95;ENST00000440909&#46;</p>"
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    "textoCompleto" => "<span class="elsevierStyleSections"><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0025">Introduction</span><p id="par0005" class="elsevierStylePara elsevierViewall">Normal alpha-1-antitrypsin &#40;AAT&#41; alleles&#44; present in 85&#37;&#8211;90&#37; of individuals&#44; are called M&#44; and the most common deficient alleles&#44; S and Z &#40;frequencies&#58; 10 and 1&#46;7&#37; of the Spanish population&#44; respectively&#41;&#46;<a class="elsevierStyleCrossRef" href="#bib0005"><span class="elsevierStyleSup">1</span></a> Patients homozygous for the M&#44; S and Z alleles express around 100&#44; 40 and 15&#37; of serum AAT&#44; respectively&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p><p id="par0010" class="elsevierStylePara elsevierViewall">Severe AAT deficiency&#44; defined as serum levels below 35&#37; of the mean expected value&#44; is a rare condition&#44; generally associated with PI&#42;ZZ homozygotes and much less frequently with combinations of Z&#44; S&#44; rare and null alleles&#46; However&#44; in recent years&#44; the Spanish AAT Deficiency Registry &#40;REDAAT&#41; laboratory has detected rare and null alleles in 1&#46;6&#37; of cases<a class="elsevierStyleCrossRef" href="#bib0015"><span class="elsevierStyleSup">3</span></a> &#40;a rate comparable with that found in Italy&#44; Switzerland&#44; Germany and the USA&#41;&#44;<a class="elsevierStyleCrossRefs" href="#bib0020"><span class="elsevierStyleSup">4&#44;5</span></a> mostly Mmalton&#44; but also Mheerlen&#44; Nullclayton&#44; Nullbellingham&#44; Mvhebron and Ybarcelona&#44; among others&#46;<a class="elsevierStyleCrossRefs" href="#bib0030"><span class="elsevierStyleSup">6&#8211;8</span></a></p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0030">Case report</span><span id="sec0015" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0035">Case 1</span><p id="par0015" class="elsevierStylePara elsevierViewall">The first patient was a 47-year-old woman&#44; non-smoker&#44; with essential hypertension&#44; recurrent bronchitis since age 25&#44; and exertional dyspnea in the last 3 years&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">Her spirometry was normal &#40;FVC 96&#37;&#44; FEV<span class="elsevierStyleInf">1</span> 105&#37;&#44; FEV<span class="elsevierStyleInf">1</span>&#47;FVC 84&#41;&#44; but her carbon monoxide diffusing capacity &#40;DLCO&#41; and transfer coefficient &#40;KCO&#41; were 68 and 61&#37; of their respective theoretical values&#46; Chest computed tomography &#40;CT&#41; showed an accentuated bronchial pattern with no signs of bronchiectasis or emphysema&#46; Liver function tests were normal&#46; The serum AAT concentration was 73&#46;7<span class="elsevierStyleHsp" style=""></span>mg&#47;dL &#40;reference values&#58; 103&#8211;200&#41;&#44; consistent with partial AAT deficiency&#44; but the phenotype labeled as PI&#42;MM did not agree with the AAT concentrations&#46; It was therefore decided to perform gene sequencing of the AAT in peripheral blood&#44; in which a PI&#42;Nullmattawa allele was detected&#46; This mutation is characterized by the insertion of a nucleotide within the coding region of exon 5&#44; and results in a frameshift that creates a premature stop signal at position 376 &#40;p&#46;Leu353PhefsX24&#41;&#46; This finally translates into a very unstable truncated protein that is degraded inside the hepatocyte and is undetectable in serum<a class="elsevierStyleCrossRef" href="#bib0045"><span class="elsevierStyleSup">9</span></a> &#40;<a class="elsevierStyleCrossRef" href="#fig0005">Fig&#46; 1</a>&#41;&#46;</p><elsevierMultimedia ident="fig0005"></elsevierMultimedia><p id="par0025" class="elsevierStylePara elsevierViewall">The second allele of the patient contained a normal variant in exon 5&#44; consisting of a substitution of a cytosine &#40;C&#41; for an adenine &#40;A&#41; in nucleotide 1200 of the cDNA&#44; generating the replacement of a glutamic acid &#40;Glu&#41; by an aspartate &#40;Asp&#41; in codon 400 &#40;c&#46; 1200A&#62;C&#47;p&#46;Glu400Asp&#41;&#44; which corresponded to an M3 allele&#46; Therefore&#44; this is a PI&#42;M3Nullmattawa heterozygous genotype&#44; with moderately reduced serum AAT levels&#46;</p></span><span id="sec0020" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0040">Case 2</span><p id="par0030" class="elsevierStylePara elsevierViewall">Another carrier of the Nullmattawa allele was identified from the REDAAT database&#46;<a class="elsevierStyleCrossRef" href="#bib0050"><span class="elsevierStyleSup">10</span></a></p><p id="par0035" class="elsevierStylePara elsevierViewall">The patient was a 67-year-old woman with a history of pleuro-pulmonary tuberculosis&#44; with documented bacteriological cure&#46; She suffered frequent respiratory infections&#46; Functional parameters were consistent with severe airway obstruction &#40;FEV<span class="elsevierStyleInf">1</span>&#58; 620<span class="elsevierStyleHsp" style=""></span>ml and FVC&#58; 1280<span class="elsevierStyleHsp" style=""></span>ml&#44; 22&#37; and 39&#37; of the theoretical values&#44; respectively&#41;&#46; High resolution computed tomography &#40;CT&#41; showed diffuse centrilobular and paraseptal emphysema and diffuse cylindrical bronchiectasis&#46; No result indicating liver involvement was detected at any time&#46;</p><p id="par0040" class="elsevierStylePara elsevierViewall">Her serum AAT concentrations were 43<span class="elsevierStyleHsp" style=""></span>mg&#47;dL&#46; IEF suggested a PI&#42;MM phenotype&#44; but as it did not correspond with the serum AAT concentrations&#44; a genetic study was performed&#46; This detected a PI&#42;Mmalton allele &#40;deletion of residue 52&#44; p&#46;Phe52del&#41;<a class="elsevierStyleCrossRef" href="#bib0055"><span class="elsevierStyleSup">11</span></a> and a PI&#42;Nullmattawa allele&#44; the combination of which explained the patient&#39;s low serum AAT concentrations&#46;</p></span></span><span id="sec0025" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0045">Discussion</span><p id="par0045" class="elsevierStylePara elsevierViewall">The exceptional nature of the null alleles &#40;estimated prevalence 100&#8211;200 times lower than the Z alleles&#41; precludes us from having precise knowledge of their clinical impact and real incidence&#46; Nevertheless&#44; it is important to take them into account&#44; as they can create diagnostic confusion if genomic studies are not performed&#46;</p><p id="par0050" class="elsevierStylePara elsevierViewall">The Mmalton allele &#40;also known as Mcagliari and Mnichinan&#41; was first described in 1987 and&#44; like the Z gene&#44; produces a poorly folded protein&#46; Around 80&#37;&#8211;90&#37; of this variant polymerizes in the hepatocyte without being secreted into the blood&#44; where it expresses levels less than 15&#37; when in homozygosity&#46; It is associated with a high risk of pulmonary emphysema and liver disease&#46;<a class="elsevierStyleCrossRefs" href="#bib0055"><span class="elsevierStyleSup">11&#44;12</span></a></p><p id="par0055" class="elsevierStylePara elsevierViewall">The Mattawa allele &#40;and in general any null allele&#41; codes for a truncated protein&#44; with major conformational changes&#44; which is degraded intracellularly without having the opportunity to aggregate&#44; and hence expresses undetectable serum AAT concentrations&#46; This means that homozygotes have a very high risk of emphysema&#44; but not of liver disease&#46;</p><p id="par0060" class="elsevierStylePara elsevierViewall">In conclusion&#44; in our patients&#44; the discrepancy between the IEF phenotype and the serum AAT concentrations led us to suspect the existence of rare alleles&#46; Molecular analysis of the gene finally provided the correct diagnosis&#44; as stated in the recommendations&#46;<a class="elsevierStyleCrossRef" href="#bib0010"><span class="elsevierStyleSup">2</span></a></p></span><span id="sec0030" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0050">Conflict of Interest</span><p id="par0065" class="elsevierStylePara elsevierViewall">The authors declare no conflict of interest&#46;</p></span></span>"
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        "resumen" => "<p id="spar0005" class="elsevierStyleSimplePara elsevierViewall">The most common deficiency alleles for alpha-1-antitrypsin deficiency &#40;AATD&#41; are Pi&#42;S and Pi&#42;S&#44; but there are also other deficiency variants&#46;</p><p id="spar0010" class="elsevierStyleSimplePara elsevierViewall">This case report describes the first two cases of AATD detected in Spain resulting from the combination of a null Mattawa allele with a normal PI&#42;M&#44; and a rare Mmalton&#46;</p><p id="spar0015" class="elsevierStyleSimplePara elsevierViewall">Both cases were initially diagnosed as Pi&#42;MM by isoelectric focusing &#40;IEF&#41;&#44; but the low serum AAT values led us to suspect the existence of rare deficiency alleles that were undetectable using this technique&#44; and to performing molecular analysis of the gene&#44; which provided the correct diagnosis&#46;</p><p id="spar0020" class="elsevierStyleSimplePara elsevierViewall">Inconsistencies between serum AAT values and the phenotype should make one suspect the existence of one of these rare alleles&#46;</p>"
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        "resumen" => "<p id="spar0025" class="elsevierStyleSimplePara elsevierViewall">Los alelos deficitarios m&#225;s frecuentes son los Pi&#42;S y Pi&#42;Z&#44; pero existen tambi&#233;n otras variantes deficientes&#46;</p><p id="spar0030" class="elsevierStyleSimplePara elsevierViewall">En la presente nota cl&#237;nica se describen los 2 primeros casos detectados en Espa&#241;a de d&#233;ficit de alfa-1-antitripsina &#40;DAAT&#41;&#44; resultante de la combinaci&#243;n de un alelo nulo Mattawa con un normal PI&#42;M y con un raro Mmalton&#46;</p><p id="spar0035" class="elsevierStyleSimplePara elsevierViewall">Ambos casos fueron inicialmente diagnosticados como Pi&#42;MM por isoelectroenfoque &#40;IEE&#41;&#44; pero los valores s&#233;ricos bajos de AAT hicieron sospechar la existencia de alelos deficientes infrecuentes indetectables por IEE&#44; por lo que se realiz&#243; un an&#225;lisis molecular del gen que proporcion&#243; el diagn&#243;stico correcto&#46;</p><p id="spar0040" class="elsevierStyleSimplePara elsevierViewall">Las incoherencias entre los valores s&#233;ricos de AAT y el fenotipo deben hacer sospechar la existencia de uno de estos alelos infrecuentes&#46;</p>"
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        "nota" => "<p class="elsevierStyleNotepara" id="npar0005">Please cite this article as&#58; Lara B&#44; Mart&#237;nez-Delgado B&#44; Torres ML&#44; Mar&#237;n-Arguedas S&#44; Bustamante A&#44; Miravitlles M&#46; D&#233;ficit de alfa-1-antitripsina asociado a la variante Matawa&#46; Arch Bronconeumol&#46; 2013&#59;49&#58;548&#8211;550&#46;</p>"
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ISSN: 15792129
Original language: English
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