NEW DIAGNOSTIC ALGORITHM FOR THE DIAGNOSIS OF THE α-1-ANTITRIPSIN DEFICIT

M. Pautasso;A. Gigante;G. Orrù

First

;G. Serreli;S. Farci;G. Pichiri;P. Coni;F. Coghe

2015-01-01

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Abstract

Over 100 allelic α-1-antitrypsin (AAT) variants have been described and, among these 30 are considered pathological. The majority of individuals with severe α-1-antitrypsin deficiency (AATD) carries the Z and S mutations. On the contrary, in Sardinian the most frequent pathological allele is the M-Malton variant (also known as Mnichinan and M-Cagliari). In normal subjects the AAT serum concentration is present with values ranging from 90 to 200 mg/dl and represents in a normal Serum Protein Electrophoresis 95% of the α1- globulins; its synthesis is under the influence of IL-6 and of Oncostatin M. The main objective of AAT is to protect alveolar pulmonary by the attach of the elastase released from activated neutrophils by various inflammatory agents.The diagnosis of AATD is challenging, particularly in heterozygous carriers of rare allelic variants, that may be asymptomatic. The aim of this study is to verify if it is useful, in the adult and pediatric population of Sardinia, utilize a new diagnostic protocol, simple, not expensive and with a better diagnostic sensibility.