Challenging Identification of a Novel PiISF and the Rare PiMmaltonZ α1-Antitrypsin Deficiency Variants in Two Patients
α1-Antitrypsin (AAT) deficiency is associated with an increased risk for lung and liver disease. Identification of AAT deficiency as the underlying cause of these diseases is important in correct patient management. AAT deficiency is commonly diagnosed by demonstrating low concentrations of AAT foll...
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| Vydáno v: | American journal of clinical pathology Ročník 141; číslo 5; s. 742 - 746 |
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| Hlavní autoři: | , , , , , , |
| Médium: | Journal Article |
| Jazyk: | angličtina |
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England
01.05.2014
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| ISSN: | 0002-9173, 1943-7722, 1943-7722 |
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| Abstract | α1-Antitrypsin (AAT) deficiency is associated with an increased risk for lung and liver disease. Identification of AAT deficiency as the underlying cause of these diseases is important in correct patient management.
AAT deficiency is commonly diagnosed by demonstrating low concentrations of AAT followed by genotype and/or phenotype testing. However, this algorithm may miss novel AAT phenotypes.
We report two cases of AAT deficiency in two patients: a case of the novel phenotype PiISF, misclassified as PiII by phenotyping, and a case of the rare phenotype PiMmaltonZ misclassified as PiM2Z.
These cases highlight the importance of understanding the limitations of a commonly used diagnostic algorithm, use of further gene sequencing in applicable cases, and the potential for underdiagnosis of AAT deficiency in patients with chronic obstructive pulmonary disease. |
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| AbstractList | α1-Antitrypsin (AAT) deficiency is associated with an increased risk for lung and liver disease. Identification of AAT deficiency as the underlying cause of these diseases is important in correct patient management.
AAT deficiency is commonly diagnosed by demonstrating low concentrations of AAT followed by genotype and/or phenotype testing. However, this algorithm may miss novel AAT phenotypes.
We report two cases of AAT deficiency in two patients: a case of the novel phenotype PiISF, misclassified as PiII by phenotyping, and a case of the rare phenotype PiMmaltonZ misclassified as PiM2Z.
These cases highlight the importance of understanding the limitations of a commonly used diagnostic algorithm, use of further gene sequencing in applicable cases, and the potential for underdiagnosis of AAT deficiency in patients with chronic obstructive pulmonary disease. α1-Antitrypsin (AAT) deficiency is associated with an increased risk for lung and liver disease. Identification of AAT deficiency as the underlying cause of these diseases is important in correct patient management.OBJECTIVESα1-Antitrypsin (AAT) deficiency is associated with an increased risk for lung and liver disease. Identification of AAT deficiency as the underlying cause of these diseases is important in correct patient management.AAT deficiency is commonly diagnosed by demonstrating low concentrations of AAT followed by genotype and/or phenotype testing. However, this algorithm may miss novel AAT phenotypes.METHODSAAT deficiency is commonly diagnosed by demonstrating low concentrations of AAT followed by genotype and/or phenotype testing. However, this algorithm may miss novel AAT phenotypes.We report two cases of AAT deficiency in two patients: a case of the novel phenotype PiISF, misclassified as PiII by phenotyping, and a case of the rare phenotype PiMmaltonZ misclassified as PiM2Z.RESULTSWe report two cases of AAT deficiency in two patients: a case of the novel phenotype PiISF, misclassified as PiII by phenotyping, and a case of the rare phenotype PiMmaltonZ misclassified as PiM2Z.These cases highlight the importance of understanding the limitations of a commonly used diagnostic algorithm, use of further gene sequencing in applicable cases, and the potential for underdiagnosis of AAT deficiency in patients with chronic obstructive pulmonary disease.CONCLUSIONSThese cases highlight the importance of understanding the limitations of a commonly used diagnostic algorithm, use of further gene sequencing in applicable cases, and the potential for underdiagnosis of AAT deficiency in patients with chronic obstructive pulmonary disease. |
| Author | Suh-Lailam, Brenda B. Procter, Melinda Haas, Jason Krautscheid, Patti Kumar, Shiva Grenache, David G. Mao, Rong |
| Author_xml | – sequence: 1 givenname: Brenda B. surname: Suh-Lailam fullname: Suh-Lailam, Brenda B. organization: Department of Pathology, University of Utah School of Medicine, Salt Lake City – sequence: 2 givenname: Melinda surname: Procter fullname: Procter, Melinda organization: ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT – sequence: 3 givenname: Patti surname: Krautscheid fullname: Krautscheid, Patti organization: ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT – sequence: 4 givenname: Jason surname: Haas fullname: Haas, Jason organization: Aurora St. Luke’s Medical Center, Milwaukee, WI – sequence: 5 givenname: Shiva surname: Kumar fullname: Kumar, Shiva organization: Aurora St. Luke’s Medical Center, Milwaukee, WI – sequence: 6 givenname: Rong surname: Mao fullname: Mao, Rong organization: Department of Pathology, University of Utah School of Medicine, Salt Lake City, ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT – sequence: 7 givenname: David G. surname: Grenache fullname: Grenache, David G. organization: Department of Pathology, University of Utah School of Medicine, Salt Lake City, ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT |
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| References | Bals ( key 20180602031927_b11-1410742) 2010; 24 Stoller ( key 20180602031927_b23-1410742) 1994; 61 Luisetti ( key 20180602031927_b3-1410742) 2004; 59 Sproule ( key 20180602031927_b19-1410742) 1983; 127 American Thoracic Society, European Respiratory Society ( key 20180602031927_b5-1410742) 2003; 168 Curiel ( key 20180602031927_b28-1410742) 1989; 264 Greene ( key 20180602031927_b13-1410742) 2013; 139 Baur ( key 20180602031927_b21-1410742) 1987; 51 Stoller ( key 20180602031927_b27-1410742) 2005; 59 de Serres ( key 20180602031927_b8-1410742) 2002; 122 Stoller ( key 20180602031927_b17-1410742) 2005; 365 Francalanci ( key 20180602031927_b22-1410742) 2009; 29 Silverman ( key 20180602031927_b7-1410742) 2009; 360 Stoller ( key 20180602031927_b6-1410742) 2012; 185 Silverman ( key 20180602031927_b4-1410742) 1989; 140 Allen ( key 20180602031927_b20-1410742) 1986; 41 Bornhorst ( key 20180602031927_b15-1410742) 2013; 143 Snyder ( key 20180602031927_b9-1410742) 2006; 52 Stoller ( key 20180602031927_b26-1410742) 2005; 128 de Serres ( key 20180602031927_b2-1410742) 2003; 64 DeMeo ( key 20180602031927_b25-1410742) 2004; 59 Needham ( key 20180602031927_b24-1410742) 2004; 59 Graham ( key 20180602031927_b14-1410742) 1989; 84 Cox ( key 20180602031927_b18-1410742) 1976 Bornhorst ( key 20180602031927_b10-1410742) 2007; 128 Greene ( key 20180602031927_b16-1410742) 2011; 412 Cox ( key 20180602031927_b12-1410742) 1981; 33 de Serres ( key 20180602031927_b1-1410742) 2003; 111 |
| References_xml | – volume: 360 start-page: 2749 year: 2009 ident: key 20180602031927_b7-1410742 article-title: Clinical practice: alpha1-antitrypsin deficiency publication-title: N Engl J Med doi: 10.1056/NEJMcp0900449 – start-page: 375 volume-title: Protides of the Biological Fluids year: 1976 ident: key 20180602031927_b18-1410742 article-title: A new deficiency allele of alpha1-antitrypsin: PiMmalton – volume: 59 start-page: 164 year: 2004 ident: key 20180602031927_b3-1410742 article-title: Alpha1-antitrypsin deficiency, 1: epidemiology of alpha1-antitrypsin deficiency publication-title: Thorax doi: 10.1136/thorax.2003.006494 – volume: 41 start-page: 568 year: 1986 ident: key 20180602031927_b20-1410742 article-title: Alpha 1 antitrypsin deficiency due to MMaltonZ phenotype: case report and family study publication-title: Thorax doi: 10.1136/thx.41.7.568 – volume: 127 start-page: 237 year: 1983 ident: key 20180602031927_b19-1410742 article-title: Pulmonary function associated with the Mmalton deficient variant of alpha 1-antitrypsin publication-title: Am Rev Respir Dis – volume: 59 start-page: 36 year: 2005 ident: key 20180602031927_b27-1410742 article-title: American Thoracic Society/European Respiratory Society Statement: Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency [in German] publication-title: Pneumologie doi: 10.1055/s-2004-830176 – volume: 29 start-page: 1593 year: 2009 ident: key 20180602031927_b22-1410742 article-title: Z and Mmalton-1–antitrypsin deficiency-associated hepatocellular carcinoma: a genetic study publication-title: Liver Int doi: 10.1111/j.1478-3231.2009.02091.x – volume: 52 start-page: 2236 year: 2006 ident: key 20180602031927_b9-1410742 article-title: Diagnosis of alpha-1–antitrypsin deficiency: an algorithm of quantification, genotyping, and phenotyping publication-title: Clin Chem doi: 10.1373/clinchem.2006.072991 – volume: 168 start-page: 818 year: 2003 ident: key 20180602031927_b5-1410742 article-title: American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency publication-title: Am J Respir Crit Care Med doi: 10.1164/rccm.168.7.818 – volume: 111 start-page: 1851 year: 2003 ident: key 20180602031927_b1-1410742 article-title: Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed publication-title: Environ Health Perspect doi: 10.1289/ehp.6511 – volume: 365 start-page: 2225 year: 2005 ident: key 20180602031927_b17-1410742 article-title: Alpha1-antitrypsin deficiency publication-title: Lancet doi: 10.1016/S0140-6736(05)66781-5 – volume: 412 start-page: 1454 year: 2011 ident: key 20180602031927_b16-1410742 article-title: Misclassification of an apparent alpha 1-antitrypsin “Z” deficiency variant by melting analysis publication-title: Clin Chim Acta doi: 10.1016/j.cca.2011.03.032 – volume: 61 start-page: 461 year: 1994 ident: key 20180602031927_b23-1410742 article-title: Physical and social impact of alpha 1–antitrypsin deficiency: results of a survey publication-title: Cleve Clin J Med doi: 10.3949/ccjm.61.6.461 – volume: 128 start-page: 482 year: 2007 ident: key 20180602031927_b10-1410742 article-title: Evaluation of an integrative diagnostic algorithm for the identification of people at risk for alpha1-antitrypsin deficiency publication-title: Am J Clin Pathol doi: 10.1309/44J4KBCFQ8E9D1B8 – volume: 140 start-page: 961 year: 1989 ident: key 20180602031927_b4-1410742 article-title: Alpha-1-antitrypsin deficiency: high prevalence in the St. Louis area determined by direct population screening publication-title: Am Rev Respir Dis doi: 10.1164/ajrccm/140.4.961 – volume: 64 start-page: 382 year: 2003 ident: key 20180602031927_b2-1410742 article-title: Genetic epidemiology of alpha-1 antitrypsin deficiency in North America and Australia/New Zealand: Australia, Canada, New Zealand and the United States of America publication-title: Clin Genet doi: 10.1034/j.1399-0004.2003.00143.x – volume: 122 start-page: 1818 year: 2002 ident: key 20180602031927_b8-1410742 article-title: Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveys publication-title: Chest doi: 10.1378/chest.122.5.1818 – volume: 51 start-page: 188 year: 1987 ident: key 20180602031927_b21-1410742 article-title: Study of familial alpha-1–proteinase inhibitor deficiency including a rare proteinase inhibitor phenotype (IZ), I: alpha-1–phenotyping and clinical investigations publication-title: Respiration doi: 10.1159/000195201 – volume: 128 start-page: 1989 year: 2005 ident: key 20180602031927_b26-1410742 article-title: Delay in diagnosis of alpha1-antitrypsin deficiency: a continuing problem publication-title: Chest doi: 10.1378/chest.128.4.1989 – volume: 24 start-page: 629 year: 2010 ident: key 20180602031927_b11-1410742 article-title: Alpha-1–antitrypsin deficiency publication-title: Best Pract Res Clin Gastroenterol doi: 10.1016/j.bpg.2010.08.006 – volume: 139 start-page: 184 year: 2013 ident: key 20180602031927_b13-1410742 article-title: Facilitating the laboratory diagnosis of alpha1-antitrypsin deficiency publication-title: Am J Clin Pathol doi: 10.1309/AJCP6XBK8ULZXWFP – volume: 59 start-page: 441 year: 2004 ident: key 20180602031927_b24-1410742 article-title: Alpha 1–antitrypsin deficiency, 3: clinical manifestations and natural history publication-title: Thorax doi: 10.1136/thx.2003.006510 – volume: 59 start-page: 259 year: 2004 ident: key 20180602031927_b25-1410742 article-title: Alpha1-antitrypsin deficiency, 2: genetic aspects of alpha(1)-antitrypsin deficiency: phenotypes and genetic modifiers of emphysema risk publication-title: Thorax doi: 10.1136/thx.2003.006502 – volume: 84 start-page: 55 year: 1989 ident: key 20180602031927_b14-1410742 article-title: Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys) publication-title: Hum Genet doi: 10.1007/BF00210671 – volume: 143 start-page: 1000 year: 2013 ident: key 20180602031927_b15-1410742 article-title: Alpha1-antitrypsin phenotypes and associated serum protein concentrations in a large clinical population publication-title: Chest doi: 10.1378/chest.12-0564 – volume: 264 start-page: 13938 year: 1989 ident: key 20180602031927_b28-1410742 article-title: Molecular basis of the liver and lung disease associated with the alpha 1-antitrypsin deficiency allele Mmalton publication-title: J Biol Chem doi: 10.1016/S0021-9258(18)80090-4 – volume: 185 start-page: 246 year: 2012 ident: key 20180602031927_b6-1410742 article-title: A review of alpha1-antitrypsin deficiency publication-title: Am J Respir Crit Care Med doi: 10.1164/rccm.201108-1428CI – volume: 33 start-page: 354 year: 1981 ident: key 20180602031927_b12-1410742 article-title: New variants of alpha 1-antitrypsin: comparison of Pi typing techniques publication-title: Am J Hum Genet |
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| SubjectTerms | Adult Algorithms alpha 1-Antitrypsin - genetics alpha 1-Antitrypsin Deficiency - diagnosis alpha 1-Antitrypsin Deficiency - genetics Female Genotype Humans Male Middle Aged Phenotype Pulmonary Disease, Chronic Obstructive - diagnosis Pulmonary Disease, Chronic Obstructive - genetics Risk |
| Title | Challenging Identification of a Novel PiISF and the Rare PiMmaltonZ α1-Antitrypsin Deficiency Variants in Two Patients |
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