Deficiency of Alpha-1 Antitrypsin

Editorial Notes1 February 1973Deficiency of Alpha-1 AntitrypsinCHESTER A. ALPER, M.D.CHESTER A. ALPER, M.D.Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-78-2-298 SectionsAboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail ExcerptIt is almost a decade since genetic deficiency of alpha-1 antitrypsin was discovered in Malmö, Sweden, by Laurell and Eriksson (1) and shown to be associated with a tendency to early-onset chronic obstructive pulmonary disease. As is so often the case, studies over the intervening years have shown the matter to be more complex than in its original conception. At least 13 genes occur at an autosomal locus (designated Pi for protease inhibitor) that controls the production of alpha-1 antitrypsin (2). These alleles are recognized by the different mobilities of their products on electrophoresis of serum. A few of these...References1. LAURELLERIKSSON CS: The electrophoretic α1-globulin pattern of serum in α1-antitrypsin deficiency. Scand J Clin Lab Invest 15:132-140, 1963 CrossrefGoogle Scholar2. FAGERHOLLAURELL MC: The Pi system—inherited variants of serum α1-antitrypsin. Progress in Medical Genetics, vol. VII, edited by Steinberg AG, Bearn AG. New York, Grune & Stratton, 1970, pp. 96-111 Google Scholar3. FAGERHOL M: Quantitative studies on the inherited variants of serum α1-antitrypsin. Scand J Clin Lab Invest 23:97-103, 1969 CrossrefMedlineGoogle Scholar4. SHARPBRIDGESKRIVIT HRW: Cirrhosis associated with alpha-1-antitrypsin deficiency: a previously unrecognized inherited disorder. J Lab Clin Med 73:934-939, 1969 MedlineGoogle Scholar5. PORTERMOWATCOOK CAP: α1-antitrypsin deficiency and neonatal hepatitis. Br Med J 3:435-439, 1972 CrossrefMedlineGoogle Scholar6. GLASGOWHERCZLEVISON JAH: Alpha1 antitrypsin (AT) deficiency with both cirrhosis and chronic obstructive lung disease in two sibs (abstract). Pediatr Res 5:427, 1971 CrossrefGoogle Scholar7. JOHNSONGOTTOVIBARNETT ADT: Chronic pulmonary disease associated with an unusual genetic type of α1-antitrypsin deficiency in childhood (abstract). Ibid. Google Scholar This content is PDF only. To continue reading please click on the PDF icon. Author, Article, and Disclosure InformationAffiliations: Department of Pediatrics Harvard Medical School Boston, Mass. PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited ByIntrakranielle Blutungen als Erstmanifestation des α1-Antitrypsinmangels bei 11 Säuglingen verursacht durch Vitamin K-MangelHepatopathie im Kindes- und Erwachsenenalter bei Alpha-1-Antitrypsin-MangelPr�nataler Ausschlu� eines Alpha-1-AntitrypsinmangelsAlpha-1-AntitrypsinCHRONIC PANCREATITIS AND ALPHA-1-ANTITRYPSINMYOCARDIAL BIOPSY IN A CASE OF CARDIOMYOPATHY AND PARTIAL α-1 ANTITRYPSIN DEFICIENCY WITH LIVER ENGAGEMENTAntitrypsin and the liver.Cirrhosis and Heterozygous FZ α1-Antitrypsin Deficiency in an Adult 1 February 1973Volume 78, Issue 2Page: 298-299KeywordsAllelesChronic obstructive pulmonary diseaseGenetic diseasesProtease inhibitors Issue Published: 1 February 1973 PDF DownloadLoading ...