[Alpha1-antitrypsin deficiency in Austria: analysis of the Austrian Alpha1-international-registry database].

Wiener klinische Wochenschrift
Florian HuberMeinhard Kneussl

Abstract

Alpha1-antitrypsin deficiency is a rare hereditary disorder. Deficient patients are at a higher risk to develop lung emphysema at an early age. The alpha1-antitrypsin registry was founded on 1996 to get new insights into the pathogenesis of the disease and to develop new therapeutic strategies. In this study the epidemiological and clinical findings of the Austrian alpha1-antitrypsin deficient patients are presented. A total of 139 patients with severe alpha1-antitrypsin deficiency, identified by phenol- and genotyping, were evaluated retrospectively by their physicians with the help of a questionnaire. Most patients were smokers or ex-smokers (71.9%) who developed symptoms in their fourth decade. The mean duration between the onset of symptoms and the final diagnosis was 6.5 years. About 25% of the evaluated patients were unable to practice their profession because of their illness. Alpha1-antitrypsin deficiency is a rare condition with delayed diagnosis. Because of the benefit of an early diagnosis further effort should be put towards early detection.

References

Jun 10, 1976·The New England Journal of Medicine·T Sveger
Feb 1, 1990·The Journal of Pediatrics·M WallA S Buist
Dec 15, 1989·Annals of Internal Medicine·E K SilvermanE J Campbell
Jan 19, 1985·Lancet·E D JanusR W Carrell
Jun 24, 1988·The American Journal of Medicine·M BrantlyR G Crystal
Nov 1, 1994·Cleveland Clinic Journal of Medicine·J K StollerJ Spray
Nov 11, 1999·American Journal of Respiratory and Critical Care Medicine·A DirksenJ Stolk
Aug 10, 2000·American Journal of Respiratory and Critical Care Medicine·A S MayerL S Newman
Mar 13, 2001·Chest·M WenckerUNKNOWN Wissenschaftliche Arbeitsgemeinschaft zur Therapie von Lungenerkrankungen
Oct 3, 2003·American Journal of Respiratory and Critical Care Medicine·UNKNOWN American Thoracic Society, UNKNOWN European Respiratory Society
Aug 11, 2004·Drugs·Georges S Juvelekian, James K Stoller
Oct 21, 2005·Chest·James K StollerCharlie Strange
Feb 4, 2006·Current Opinion in Pulmonary Medicine·Hatem Abusriwil, Robert A Stockley
May 18, 2007·American Journal of Respiratory and Critical Care Medicine·Klaus F RabeUNKNOWN Global Initiative for Chronic Obstructive Lung Disease
Oct 30, 2007·Translational Research : the Journal of Laboratory and Clinical Medicine·Ilaria FerrarottiMaurizio Luisetti
Mar 4, 2008·The Journal of Allergy and Clinical Immunology·Gary Rachelefsky, D Kyle Hogarth
Jun 26, 2009·The New England Journal of Medicine·Edwin K Silverman, Robert A Sandhaus

❮ Previous
Next ❯

Citations

Oct 12, 2010·Wiener klinische Wochenschrift·Friedrich Kummer
Aug 8, 2018·United European Gastroenterology Journal·Mattias MandorferThomas Reiberger

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

© 2021 Meta ULC. All rights reserved