In this issue the Journal is reprinting the Executive Summary of the new evidence-based standards regarding the management of individuals with alpha-1 antitrypsin (AAT) deficiency.1,2 Upon reading the summary, respiratory therapists (RTs), like all clinicians, will ask themselves several important questions about AAT deficiency, namely: 1. How well do I understand AAT deficiency? 2. What is the...

In this review article, in addition to the clinical manifestation of the alpha 1 antitrypsin deficiency, the genetics and molecular diagnosis of the disease and the effects of the causative mutations were reviewed.

The serpin (serine proteinase inhibitor) superfamily includes antithrombin, α1-antitrypsin and PAI-1, which control the coagulation, inflammation and fibrinolytic pathways, respectively. Serpins have a unique method of inhibition that involves a conformational change of the protein (Huntington et al., 2000). This transition is essential for the mechanism of serpin inhibition but it renders serp...

One hundred and three infants with prolonged cholestasis beginning before 3 months were classified as having alpha-1-antitrypsin deficiency (17 patients), scanty interlobular bile ducts (16 patients), or "neonatal hepatitis" (70 patients). Twenty-two gradually developed chronic liver disease and the remaining 81 recovered within a few months. Prognosis was found to be poor for infants with alph...

BACKGROUND/AIM Alpha-1 antitrypsin deficiency may be a potential predisposing factor for interstitial lung fibrosis. We investigated alpha-1 antitrypsin levels and its polymorphisms in patients with interstitial lung disease. MATERIALS AND METHODS A total of 103 interstitial lung disease patients were compared. RESULTS The mean alpha-1 antitrypsin level in idiopathic interstitial pneumonia ...

As revealed by appropriate fractionation procedures, human serum deficient in alpha(1)-antitrypsin (alpha(1)-AT) is also deficient in the naturally occurring chemotactic factor inactivator. These serum donors had severe pulmonary emphysema. Serum from patients with clinically similar pulmonary disease, but with presence of alpha(1)-AT in the serum, showed no such deficiency of the chemotactic f...

Jaundice in the newborn period can be physiologic and is often due to benign causes. Jaundice due to conjugated hyperbilirubinemia extending beyond the second week of life may be an early sign of several cholestatic or metabolic liver diseases, and it requires logical and timely analysis so that specific treatments can be initiated. Alpha-1 antitrypsin deficiency is the most common genetic caus...

Five out of 28 infants investigated in a regional survey of neonatal hepatitis were found to have genetically-determined deficiency of ai-antitrypsin (ZZ phenotype). The clinical course and pathological changes varied considerably. All five infants had an acute hepatitis-like illness, and although this subsided cirrhosis later developed in three cases. The remaining two infants had minimal abno...

alpha 1 antitrypsin deficiency is associated with predisposition to the development of pulmonary emphysema and childhood cirrhosis. There are two common deficiency alleles in the European population, proteinase inhibitor (Pi) Z and S. In addition, there are rare Pinull or QO variants which can be difficult to diagnose. A family assigned as having the PiQO allele by AAT protein quantification an...