메뉴 건너뛰기




Volumn 139, Issue 2, 2013, Pages 184-191

Facilitating the laboratory diagnosis of α1-antitrypsin deficiency

Author keywords

A1 Antitrypsin deficiency; A1A; AAT; Compendium; Electrophoresis; Isoelectric focusing; Library; Phenotype

Indexed keywords

ALPHA 1 ANTITRYPSIN;

EID: 84875078140     PISSN: 00029173     EISSN: 19437722     Source Type: Journal    
DOI: 10.1309/AJCP6XBK8ULZXWFP     Document Type: Article
Times cited : (27)

References (30)
  • 2
    • 20744450475 scopus 로고    scopus 로고
    • Alpha1-antitrypsin deficiency
    • Stoller JK, Aboussouan LS. Alpha1-antitrypsin deficiency. Lancet. 2005;365:2225-2236.
    • (2005) Lancet. , vol.365 , pp. 2225-2236
    • Stoller, J.K.1    Aboussouan, L.S.2
  • 3
    • 2442621622 scopus 로고    scopus 로고
    • Alpha 1-antitrypsin deficiency, 3: Clinical manifestations and natural history
    • Needham M, Stockley RA. Alpha 1-antitrypsin deficiency, 3: Clinical manifestations and natural history. Thorax. 2004;59:441-445.
    • (2004) Thorax. , vol.59 , pp. 441-445
    • Needham, M.1    Stockley, R.A.2
  • 4
    • 4744356921 scopus 로고    scopus 로고
    • Alpha-1-antitrypsin deficiency: Diagnosis and treatment
    • viii-ix
    • Perlmutter DH. Alpha-1-antitrypsin deficiency: Diagnosis and treatment. Clin Liver Dis. 2004;8:839-859, viii-ix.
    • (2004) Clin Liver Dis. , vol.8 , pp. 839-859
    • Perlmutter, D.H.1
  • 5
    • 0141706635 scopus 로고    scopus 로고
    • American Thoracic Society/European Respiratory Society statement: Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency
    • American Thoracic Society/European Respiratory Society statement: Standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiency. Am J Respir Crit Care Med. 2003;168:818-900.
    • (2003) Am J Respir Crit Care Med. , vol.168 , pp. 818-900
  • 6
    • 38949210332 scopus 로고    scopus 로고
    • Primary care diagnosis of alpha-1 antitrypsin deficiency: Issues and opportunities
    • Stoller JK, Fromer L, Brantly M, et al. Primary care diagnosis of alpha-1 antitrypsin deficiency: Issues and opportunities. Cleve Clin J Med. 2007;74:869-874.
    • (2007) Cleve Clin J Med. , vol.74 , pp. 869-874
    • Stoller, J.K.1    Fromer, L.2    Brantly, M.3
  • 7
    • 0348013043 scopus 로고    scopus 로고
    • Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed
    • de Serres FJ. Alpha-1 antitrypsin deficiency is not a rare disease but a disease that is rarely diagnosed. Environ Health Perspect. 2003;111:1851-1854.
    • (2003) Environ Health Perspect. , vol.111 , pp. 1851-1854
    • De Serres, F.J.1
  • 8
    • 27144471656 scopus 로고    scopus 로고
    • Delay in diagnosis of alpha1-antitrypsin deficiency: A continuing problem
    • Stoller JK, Sandhaus RA, Turino G, et al. Delay in diagnosis of alpha1-antitrypsin deficiency: A continuing problem. Chest. 2005;128:1989-1994.
    • (2005) Chest. , vol.128 , pp. 1989-1994
    • Stoller, J.K.1    Sandhaus, R.A.2    Turino, G.3
  • 9
    • 0028543862 scopus 로고
    • Physical and social impact of alpha 1-antitrypsin deficiency: Results of a survey
    • Stoller JK, Smith P, Yang P, et al. Physical and social impact of alpha 1-antitrypsin deficiency: Results of a survey. Cleve Clin J Med. 1994;61:461-467.
    • (1994) Cleve Clin J Med. , vol.61 , pp. 461-467
    • Stoller, J.K.1    Smith, P.2    Yang, P.3
  • 10
    • 0036433482 scopus 로고    scopus 로고
    • Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: Summary of an analysis of published genetic epidemiologic surveys
    • de Serres FJ. Worldwide racial and ethnic distribution of alpha1-antitrypsin deficiency: Summary of an analysis of published genetic epidemiologic surveys. Chest. 2002;122:1818-1829.
    • (2002) Chest. , vol.122 , pp. 1818-1829
    • De Serres, F.J.1
  • 11
    • 33646375709 scopus 로고    scopus 로고
    • Validation of a rapid simple method to measure alpha1-antitrypsin in human dried blood spots
    • Gorrini M, Ferrarotti I, Lupi A, et al. Validation of a rapid, simple method to measure alpha1-antitrypsin in human dried blood spots. Clin Chem. 2006;52:899-901.
    • (2006) Clin Chem. , vol.52 , pp. 899-901
    • Gorrini, M.1    Ferrarotti, I.2    Lupi, A.3
  • 12
    • 0032857973 scopus 로고    scopus 로고
    • High-speed detection of the two common alpha(1)-antitrypsin deficiency alleles Pi*Z and Pi*S by real-time fluorescence PCR and melting curves
    • Aslanidis C, Nauck M, Schmitz G. High-speed detection of the two common alpha(1)-antitrypsin deficiency alleles Pi*Z and Pi*S by real-time fluorescence PCR and melting curves. Clin Chem. 1999;45:1872-1875.
    • (1999) Clin Chem. , vol.45 , pp. 1872-1875
    • Aslanidis, C.1    Nauck, M.2    Schmitz, G.3
  • 13
    • 79961077747 scopus 로고    scopus 로고
    • Simultaneous phenotyping and quantification of alpha-1-antitrypsin by liquid chromatography-tandem mass spectrometry
    • Chen Y, Snyder MR, Zhu Y, et al. Simultaneous phenotyping and quantification of alpha-1-antitrypsin by liquid chromatography-tandem mass spectrometry. Clin Chem. 2011;57:1161-1168.
    • (2011) Clin Chem. , vol.57 , pp. 1161-1168
    • Chen, Y.1    Snyder, M.R.2    Zhu, Y.3
  • 14
    • 0037104966 scopus 로고    scopus 로고
    • Rapid screening for alpha1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease using dried blood specimens
    • Rodriguez F, Jardi R, Costa X, et al. Rapid screening for alpha1-antitrypsin deficiency in patients with chronic obstructive pulmonary disease using dried blood specimens. Am J Respir Crit Care Med. 2002;166:814-817.
    • (2002) Am J Respir Crit Care Med. , vol.166 , pp. 814-817
    • Rodriguez, F.1    Jardi, R.2    Costa, X.3
  • 15
    • 84875970525 scopus 로고    scopus 로고
    • Alpha 1-antitrypsin phenotypes and associated serum protein concentrations in a large clinical population
    • [published online September 24,] doi:10.1378/chest.12-0564
    • Bornhorst JA, Greene DN, Ashwood ER, et al. Alpha 1-antitrypsin phenotypes and associated serum protein concentrations in a large clinical population [published online September 24, 2012]. Chest. doi:10.1378/chest.12- 0564.
    • (2012) Chest.
    • Bornhorst, J.A.1    Greene, D.N.2    Ashwood, E.R.3
  • 16
    • 84865405406 scopus 로고    scopus 로고
    • Reference and interpretive ranges for alpha1-antitrypsin quantitation by phenotype in adult and pediatric populations
    • Donato LJ, Jenkins SM, Smith C, et al. Reference and interpretive ranges for alpha1-antitrypsin quantitation by phenotype in adult and pediatric populations. Am J Clin Pathol. 2012;138:398-405.
    • (2012) Am J Clin Pathol. , vol.138 , pp. 398-405
    • Donato, L.J.1    Jenkins, S.M.2    Smith, C.3
  • 17
    • 33845536840 scopus 로고    scopus 로고
    • Diagnosis of alpha-1-antitrypsin deficiency: An algorithm of quantification, genotyping, and phenotyping
    • Snyder MR, Katzmann JA, Butz ML, et al. Diagnosis of alpha-1-antitrypsin deficiency: An algorithm of quantification, genotyping, and phenotyping. Clin Chem. 2006;52:2236-2242.
    • (2006) Clin Chem. , vol.52 , pp. 2236-2242
    • Snyder, M.R.1    Katzmann, J.A.2    Butz, M.L.3
  • 18
    • 34748900792 scopus 로고    scopus 로고
    • Evaluation of an integrative diagnostic algorithm for the identification of people at risk for alpha1-antitrypsin deficiency
    • Bornhorst JA, Procter M, Meadows C, et al. Evaluation of an integrative diagnostic algorithm for the identification of people at risk for alpha1-antitrypsin deficiency. Am J Clin Pathol. 2007;128:482-490.
    • (2007) Am J Clin Pathol. , vol.128 , pp. 482-490
    • Bornhorst, J.A.1    Procter, M.2    Meadows, C.3
  • 19
    • 0018911401 scopus 로고
    • PiZpratt: A new alpha 1-antitrypsin allele in an American Negro family
    • Hug G, Chuck G, Bowles B, et al. PiZpratt: A new alpha 1-antitrypsin allele in an American Negro family. Hum Genet. 1980;56:107-110.
    • (1980) Hum Genet. , vol.56 , pp. 107-110
    • Hug, G.1    Chuck, G.2    Bowles, B.3
  • 20
    • 0024820821 scopus 로고
    • Molecular characterisation of three alpha-1-antitrypsin deficiency variants: Proteinase inhibitor (Pi) nullcardiff (Asp256-Val); PiMmalton (Phe51-deletion) and PiI (Arg39-?-Cys)
    • Graham A, Kalsheker NA, Newton CR, et al. Molecular characterisation of three alpha-1-antitrypsin deficiency variants: Proteinase inhibitor (Pi) nullcardiff (Asp256-Val); PiMmalton (Phe51-deletion) and PiI (Arg39-?-Cys). Hum Genet. 1989;84:55-58.
    • (1989) Hum Genet. , vol.84 , pp. 55-58
    • Graham, A.1    Kalsheker, N.A.2    Newton, C.R.3
  • 21
    • 0030424555 scopus 로고    scopus 로고
    • Kinetic characterisation of alpha-1-antitrypsin F as an inhibitor of human neutrophil elastase
    • Cook L, Burdon JG, Brenton S, et al. Kinetic characterisation of alpha-1-antitrypsin F as an inhibitor of human neutrophil elastase. Pathology. 1996;28:242-247.
    • (1996) Pathology. , vol.28 , pp. 242-247
    • Cook, L.1    Burdon, J.G.2    Brenton, S.3
  • 22
    • 35348944463 scopus 로고    scopus 로고
    • Genotypes and serum concentrations of human alpha-1-antitrypsin "P" protein variants in a clinical population
    • Bornhorst JA, Calderon FR, Procter M, et al. Genotypes and serum concentrations of human alpha-1-antitrypsin "P" protein variants in a clinical population. J Clin Pathol. 2007;60:1124-1128.
    • (2007) J Clin Pathol. , vol.60 , pp. 1124-1128
    • Bornhorst, J.A.1    Calderon, F.R.2    Procter, M.3
  • 23
    • 0021743897 scopus 로고
    • Silver-stained phenotyping of alpha 1-antitrypsin in dried blood and serum specimens
    • Massi G, Marano G, Patalano F, et al. Silver-stained phenotyping of alpha 1-antitrypsin in dried blood and serum specimens. Clin Chem. 1984;30:1674-1676.
    • (1984) Clin Chem. , vol.30 , pp. 1674-1676
    • Massi, G.1    Marano, G.2    Patalano, F.3
  • 24
    • 43349089536 scopus 로고    scopus 로고
    • Evaluation of a new Sebia isoelectrofocusing kit for alpha 1-antitrypsin phenotyping with the Hydrasys System
    • Zerimech F, Hennache G, Bellon F, et al. Evaluation of a new Sebia isoelectrofocusing kit for alpha 1-antitrypsin phenotyping with the Hydrasys System. Clin Chem Lab Med. 2008;46:260-263.
    • (2008) Clin Chem Lab Med. , vol.46 , pp. 260-263
    • Zerimech, F.1    Hennache, G.2    Bellon, F.3
  • 25
    • 84855429918 scopus 로고    scopus 로고
    • Alpha1-antitrypsin deficiency in fraternal twins born with familial spontaneous pneumothorax
    • Greene DN, Procter M, Krautscheid P, et al. Alpha1-antitrypsin deficiency in fraternal twins born with familial spontaneous pneumothorax. Chest. 2012;141:239-241.
    • (2012) Chest. , vol.141 , pp. 239-241
    • Greene, D.N.1    Procter, M.2    Krautscheid, P.3
  • 26
    • 79956292638 scopus 로고    scopus 로고
    • Misclassification of an apparent alpha 1-antitrypsin "Z" deficiency variant by melting analysis
    • Greene DN, Procter M, Grenache DG, et al. Misclassification of an apparent alpha 1-antitrypsin "Z" deficiency variant by melting analysis. Clin Chim Acta. 2011;412:1454-1456.
    • (2011) Clin Chim Acta. , vol.412 , pp. 1454-1456
    • Greene, D.N.1    Procter, M.2    Grenache, D.G.3
  • 27
    • 0014345394 scopus 로고
    • Principles and practice of mass screening for disease [in Spanish]
    • Wilson JM, Jungner YG. Principles and practice of mass screening for disease [in Spanish]. Bol Oficina Sanit Panam. 1968;65:281-393.
    • (1968) Bol Oficina Sanit Panam. , vol.65 , pp. 281-393
    • Wilson, J.M.1    Jungner, Y.G.2
  • 28
    • 33645223500 scopus 로고    scopus 로고
    • Results of a survey of patients with alpha-1 antitrypsin deficiency
    • Strange C, Stoller JK, Sandhaus RA, et al. Results of a survey of patients with alpha-1 antitrypsin deficiency. Respiration. 2006;73:185-190.
    • (2006) Respiration. , vol.73 , pp. 185-190
    • Strange, C.1    Stoller, J.K.2    Sandhaus, R.A.3
  • 29
    • 84867502602 scopus 로고    scopus 로고
    • Rapid DNA extraction protocol for detection of alpha-1 antitrypsin deficiency from dried blood spots by real-time PCR
    • Struniawski R, Szpechcinski A, Poplawska B, et al. Rapid DNA extraction protocol for detection of alpha-1 antitrypsin deficiency from dried blood spots by real-time PCR. Adv Exp Med Biol. 2013;756:29-37.
    • (2013) Adv Exp Med Biol. , vol.756 , pp. 29-37
    • Struniawski, R.1    Szpechcinski, A.2    Poplawska, B.3
  • 30
    • 84878065966 scopus 로고    scopus 로고
    • Grifols Therapeutics, Free Grifols AlphaKit. Accessed September 2012
    • Grifols Therapeutics. Free Grifols AlphaKit. http://www. prolastin.com/html/patient-get-tested-order.htm. Accessed September 2012.


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.