Clinical Features and Natural History of Severe α1-Antitrypsin Deficiency
1997; Elsevier BV; Volume: 111; Issue: 6 Linguagem: Inglês
10.1378/chest.111.6_supplement.123s
ISSN1931-3543
Autores Tópico(s)Blood Coagulation and Thrombosis Mechanisms
ResumoSince its first description by Laurell and Eriksson 1 Laurell CB Eriksson S The electrophoretic a1-globulin pattern of serum in a1-antitrypsin deficiency.. Scand J Clin Lab Invest. 1963; 15: 132-140 Crossref Google Scholar in 1963, α1-antitrypsin (α1-AT) deficiency has been studied extensively, with substantial strides made in understanding the cellular and molecular biology of this disorder. The α1-AT gene has been located on the long arm of chromosome 14 and the gene has been sequenced and cloned. 2 Brantly M Nukiwa T Crystal RG Molecular basis of alpha 1-antitrypsin deficiency.. Am J Med. 1988; 84(suppl 6A): 13-31 Abstract Full Text PDF Google Scholar The complete primary structure of the normal α1-AT molecule has been characterized, and the mechanism of impaired hepatic secretion of the most common severe deficiency variant, the Z-type protein, has been characterized as "loop-sheet polymerization." 3 Lomas DA Evans DL Finch JT et al. The mechanism of Z a1-antitrypsin accumulation in the liver.. Nature. 1992; 357: 605-607 Crossref PubMed Scopus (886) Google Scholar In the context of this extensive basic understanding, it remains a paradox that current cellular and molecular understanding of α1-AT deficiency greatly outstrips current knowledge about clinical aspects of this disease. Indeed, the answers to many fundamental clinical questions remain incompletely understood. For example, what is the natural history of α1-AT deficiency? What factors other than cigarette smoking accelerate lung dysfunction? What factors determine liver dysfunction? In addition to these clinical questions, important epidemiologic questions loom. For example, why do the conditions of so many individuals go undetected? Would population screening be effective and should it be undertaken? ErrataCHESTVol. 113Issue 2PreviewIn the June 1997 Supplement, the article "Clinical Features and Natural History of Severe α1-Antitrypsin Deficiency: Roger S. Mitchell Lecture," (CHEST 1997; 111:123S–28S) by Stoller, contained an error. In the key to Figure 1, reproduced from reference 30, the words "Index" and "Non-index" are reversed. Full-Text PDF
Referência(s)