78
Views
12
CrossRef citations to date
0
Altmetric
Reviews

Alpha1-antitrypsin deficiency: current perspective on research, diagnosis, and management

, &
Pages 151-160 | Published online: 20 Oct 2022

References

  • [AATDRSG] Alpha-1-Antitrypsin Deficiency Registry Study Group1998Survival and FEV1 decline in individuals with severe deficiency of α1-antitrypsinAm J Respir Crit Care Med15849599655706
  • [ATSERS] American Thoracic Society, European Respiratory Society2003American Thoracic Society/European Respiratory Society statement: standards for the diagnosis and management of individuals with alpha-1 antitrypsin deficiencyAm J Respir Crit Care Med16881890014522813
  • AnnovazziLViglioSGheduzziD2004High levels of desmosines in urine and plasma of patients with pseudoxanthoma elasticumEur J Clin Invest341566414764080
  • BouttenAVenembrePSetaN1998Oncostatin M is a potent stimulator of alpha1-antitrypsin secretion in lung epithelial cells: modulation by transforming growth factor-beta and interferon-gammaAm J Respir Cell Mol Biol18511209533938
  • ChapmanKRBradiACPatersonD2005Slower lung function decline during augmentation therapy in patients with alpha1-antitrypsin deficiency (A1ATD): results from the Canadian Air RegistryAm J Respir Crit Care Med1703824
  • ChappellSGuetta-BaranesTBatowskiK2004Haplotypes of the alpha-1 antitrypsin gene in healthy controls and Z deficiency patientsHum Mutat24535615532029
  • De La RozaCRodriguez-FriasFLaraB2005Results of a case-detection program for α1-antitrypsin deficiency in COPD patientsEur Respir J266162216204591
  • de SerresFJ2002–Worldwide racial and ethnic distribution of α1-antitrypsin deficiency: summary of an analysis of published genetic epidemiologic surveysChest12218182912426287
  • DirksenADijkmanJHMadsenF1999A randomized clinical trial of α1-antitrypsin augmentation therapyAm J Respir Crit Care Med16014687210556107
  • FerrarottiIBaccheschiJZorzettoM2005Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiencyJ Med Genet42282715744045
  • FrancavillaRCastellanetaSPHadẑićN2000Prognosis of alpha-1-antitrypsin deficiency-related liver disease in the era of paediatric liver transplantationJ Hepatol329869210898319
  • GolponHAColdrenCDZamoraMR2004Emphysema lung tissue gene expression profilingAm J Respir Cell Mol Biol3159560015284076
  • GottliebDJStonePJSparrowD1996Urinary desmosine excretion in smokers with and without rapid decline of lung function: the Normative Aging StudyAm J Respir Crit Care Med154129058912738
  • HindsRHadchouelACheesemanP2004Phenotypic expression of liver disease in families with PiZZ Alpha-1-antitrypsin deficiencyJ Pediatr Gastroenterol Nutr39Suppl 1S139
  • HosokawaNTremblayLOYouZ2003Enhancement of endoplasmic reticulum (ER) degradation of misfolded null Hong Kong α1-antitrypsin by human ER mannosidase IJ Biol Chem278262879412736254
  • JanciauskieneS2001Conformational properties of serine proteinase inhibitors (serpins) confer multiple pathophysiological rolesBiochim Biophys Acta15352213511278163
  • JanciauskieneSErikkssonSCalleaF2004Differential detection of PAS-positive inclusions formed by the Z, Siiyama, and Mmalton variants of alpha1-antitrypsinHepatology4012031015486938
  • JoostOWilkJBCupplesA2002Genetic loci influencing lung function: a genomewide scan in the Framingham studyAm J Respir Crit Care Med165795911897646
  • KalshekerNMorleySMorganK2002Gene regulation of the serine proteinase inhibitors α1-antitrypsin and α1-antichymotrypsinBiochem Soc Trans3093812023832
  • LawlessMWGreeneCMMulgrewA2004Activation of endoplasmic reticulum-specific stress responses associated with the conformational disease Z α1-antitrypsin deficiencyJ Immunol1725722615100318
  • LaurellCBErikssonS1963The electrophoretic pattern α1-globulin pattern of serum in α1-antitrypsin deficiencyScan J Clin Lab Invest1513240
  • LiebermanJ2000Augmentation therapy reduces frequency of lung infections in antitrypsin deficiency: a new hypothesis with supporting dataChest1181480511083705
  • LodishHBaltimoreDBerkALodishHBaltimoreDBerkA1995Transcriptional control of gene expressionMolecular cell biology3rd edNew YorkWH Freeman and Company/Worth Publishers
  • LomasDAMahadevaR2002α1-Antitrypsin polymerization and the serpinopathies: pathobiology and prospects for therapyJ Clin Invest11015859012464660
  • LuisettiMMiravitllesMStockleyRA2002α1-antitrypsin deficiency: a report from the 2nd meeting of the Alpha One International Registry, Rapallo (Genoa, Italy), 2001Eur Respir J201050612412702
  • MaloneMMieli-VerganiGMowatAP1989The fetal liver in PiZZ alpha-1-antitrypsin deficiency: a report of five casesPediatr Pathol9623312481300
  • NavickisRJWilkesMM2004Update on research, diagnosis and management of alpha1-antitrypsin deficiency. Highlights from the 3rd international Alpha One International Registry Meeting, June 2003, Barcelona, SpainInt J COPD127992
  • NitaIHollanderCWestinU2005Prolastin, a pharmaceutical preparation of purified human α1-antitrypsin, blocks endotoxin-mediated cytokine releaseRespir Res61215683545
  • PalmerLJCeledónJCChapmanHA2003Genomewide linkage analysis of bronchodilator responsiveness and post-bronchodilator spirometric phenotypes in chronic obstructive pulmonary diseaseHum Mol Genet12119921012719384
  • PalmerEAKruseKBFewellSW2003Differential requirements of novel A1PiZ degradation deficient (ADD) genes in ER-associated protein degradationJ Cell Sci11623617312711700
  • ParfreyHMahadevaRRavenhillNA2003Targeting a surface cavity of α1-antitrypsin to prevent conformational diseaseJ Biol Chem27833060612807889
  • ParrDGStoelBCStolkJ2004aPattern of emphysema distribution in α1-antitrypsin deficiency influences lung function impairmentAm J Respir Crit Care Med1701172815306534
  • ParrDGStoelBCStolkJ2004bInfluence of calibration on densitometric studies of emphysema using computed tomographyAm J Respir Crit Care Med1708839015271692
  • PauwelsRABuistASCalverleyPM2001Global strategy for the diagnosis, management, and prevention of chronic obstructive pulmonary disease. NHLBI/WHO Global Initiative for Chronic Obstructive Lung Disease (GOLD) Workshop summaryAm J Respir Crit Care Med16312567611316667
  • PurkayasthaPKlemkeJWLavenderS2005Antitrypsin polymerization: a fluorescence correlation spectroscopic studyBiochemistry442642915709777
  • SeersholmNWenckerMBanikN1997Does α1-antitrypsin augmentation therapy slow the annual decline in FEV1 in patients with severe hereditary α1-antitrypsin deficiency?Eur Respir J10226039387950
  • SilvermanEKPalmerLJMosleyJD2002Genomewide linkage analysis of quantitative spirometric phenotypes in severe early-onset chronic obstructive pulmonary diseaseAm J Hum Genet7012293911914989
  • SongSMorganMEllisT1998Sustained secretion of human alpha-1-antitrypsin from murine muscle transduced with adeno-associated virus vectorsProc Natl Acad Sci U S A951438489826709
  • SpencerLTPaoneGKreinPM2004Role of human neutrophil peptides in lung inflammation associated with α1-antitrypsin deficiencyAm J Physiol Lung Cell Mol Physiol286L5142014594730
  • StockleyR1999Alpha-1-antitrypsin deficiency: First scientific meeting of the alpha-1 international registry [online]Accessed 04 October 2005 URL: http://www.alfa1.org/deteccion_registro_air_meeting_1999.htm
  • StolkJNgWHBakkerME2003Correlation between annual change in health status and computer tomography derived lung density in subjects with α1-antitrypsin deficiencyThorax5810273014645966
  • StolkJVeldhuisenBAnnovazziL2005Short-term variability of biomarkers of proteinase activity in patients with emphysema associated with type Z alpha-1-antitrypsin deficiencyRespir Res64715927063
  • StonePJGottliebDJO’ConnorGT1995Elastin and collagen degradation products in urine of smokers with and without chronic obstructive pulmonary diseaseAm J Respir Crit Care Med15195297697272
  • SvegerTThelinTMcNeilTF1999Neonatal alpha1-antitrypsin screening: parents’ views and reactions 20 years after the identification of the deficiency stateActa Paediatr88315810229044
  • SvegerTThelinTMcNeilTF1997Young adults with alpha 1-antitrypsin deficiency identified neonatally: their health, knowledge about and adaptation to the high-risk conditionActa Paediatr8637409116423
  • SvegerTErikssonS1995The liver in adolescents with alpha 1-antitrypsin deficiencyHepatology2251477635419
  • SvegerTOhlssonKPiitulainenE1998Adolescents with alpha1-antitrypsin deficiency have high alpha2-macroglobulin and low neutrophil lipocalin and elastase levels in plasmaPediatr Res44939419853931
  • WHO1997α1-antitrypsin deficiency: memorandum from a WHO meetingBull World Health Organ753974159447774
  • WenckerMFuhrmannBBanikN2001Longitudinal follow-up of patients with α1-protease inhibitor deficiency before and during therapy with IV α1-protease inhibitorChest1197374411243951
  • WewersMDCasolaroMASellersSE1987Replacement therapy for alpha 1-antitrypsin deficiency associated with emphysemaN Engl J Med3161055623494198
  • WuYSwuliusMTMoremenKW2003Elucidation of the molecular logic by which misfolded α1-antitrypsin is preferentially selected for degradationProc Natl Acad Sci U S A10082293412815101