Curr Health Sci J, vol. 39, no. 3, 2013

The Clinical Implications of the Alpha 1- Antitrypsin Deficiency

[Review]

F. PETRESCU1, V. BICIUSCA1, C. VOICAN1, ILEANA-OCTAVIA PETRESCU2, DANIELA CIOBANU1, DIANA TUDORASCU1

1 Department of Medical Semiology , University of Medicine and Pharmacy of Craiova 2 Department of Pediatrics, University of Medicine and Pharmacy of Craiova


Abstract:

Alpha1-antitrypsin deficiency, one of the three most common potentially lethal genetic disorders among whites, an autosomal recessive genetic disease, leads to early-onset panacinar emphysema, increased lung cancer risk, chronic liver disease and skin disorders. It has recently been studied the causal relationship of alpha1-antitrypsin deficiency (mainly the Z allele) to inflammatory bowel disease, but also to the increased incidence of extraintestinal manifestation, the most frequent being the cutaneous, articular and hepatic ones, as well as its relation to fibromyalgia.


Keywords:
alpha1-antitrypsin deficiency, genotype, morbidity



Corresponding:
Assistant Professor Florin Petrescu, MD, PhD, Second Medical Clinic, County Hospital of Emergency, Tabaci Street, no.1, University of Medicine and Pharmacy, Petru Rares Street, no 2, Craiova, Dolj; e-mail: semio@umfcv.ro


DOI 10.12865/CHSJ.39.03.02 - Download PDF