2024-03-28T13:52:31Zhttp://repisalud.isciii.es/oai/requestoai:repisalud.isciii.es:20.500.12105/97552022-10-26T07:37:10Zcom_20.500.12105_15322com_20.500.12105_2051com_20.500.12105_2102com_20.500.12105_2052col_20.500.12105_16984col_20.500.12105_16979col_20.500.12105_16958col_20.500.12105_2103
Repisalud
author
Torres-Durán, María
author
Lopez-Campos, José Luis
author
Barrecheguren, Miriam
author
Miravitlles, Marc
author
Martinez-Delgado, Beatriz
author
Castillo, Silvia
author
Escribano, Amparo
author
Baloira, Adolfo
author
Navarro-Garcia, María Mercedes
author
Pellicer, Daniel
author
Bañuls, Lucía
author
Magallón, María
author
Casas, Francisco
author
Dasí, Francisco
funder
Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF)
funder
Instituto de Salud Carlos III
2020-04-27T09:27:24Z
2020-04-27T09:27:24Z
2018
Orphanet J Rare Dis. 2018 Jul 11;13(1):114.
1750-1172
http://hdl.handle.net/20.500.12105/9755
29996870
10.1186/s13023-018-0856-9
1750-1172
Orphanet journal of rare diseases
BACKGROUND: Alpha-1 antitrypsin deficiency (AATD) is a rare hereditary condition that leads to decreased circulating alpha-1 antitrypsin (AAT) levels, significantly increasing the risk of serious lung and/or liver disease in children and adults, in which some aspects remain unresolved. METHODS: In this review, we summarise and update current knowledge on alpha-1 antitrypsin deficiency in order to identify and discuss areas of controversy and formulate questions that need further research. RESULTS: 1) AATD is a highly underdiagnosed condition. Over 120,000 European individuals are estimated to have severe AATD and more than 90% of them are underdiagnosed. CONCLUSIONS: 2) Several clinical and etiological aspects of the disease are yet to be resolved. New strategies for early detection and biomarkers for patient outcome prediction are needed to reduce morbidity and mortality in these patients; 3) Augmentation therapy is the only specific approved therapy that has shown clinical efficacy in delaying the progression of emphysema. Regrettably, some countries reject registration and reimbursement for this treatment because of the lack of larger randomised, placebo-controlled trials. 4) Alternative strategies are currently being investigated, including the use of gene therapy or induced pluripotent stem cells, and non-augmentation strategies to prevent AAT polymerisation inside hepatocytes.
eng
Alpha-1 antitrypsin
Alpha-1 antitrypsin deficiency
Augmentation therapy
COPD
Cirrhosis
Panniculitis
Rare respiratory diseases
SERPINA1
Vasculitis
Alpha-1 antitrypsin deficiency: outstanding questions and future directions
journal article
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URL
https://repisalud.isciii.es/bitstream/20.500.12105/9755/1/Alpha1AntitrypsinDeficiency_2018.pdf
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URL
https://repisalud.isciii.es/bitstream/20.500.12105/9755/3/Alpha1AntitrypsinDeficiency_2018.pdf.txt
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Alpha1AntitrypsinDeficiency_2018.pdf.txt