ALLMedicine™ Alpha-1 Antitrypsin Deficiency Center
Research & Reviews 617 results
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8018552
International Journal of Chronic Obstructive Pulmonary Di... Stockley JA, Stockley RA et. al.
Apr 7th, 2021 - It is known that lung function decline in Alpha-1 Antitrypsin Deficiency (AATD) varies. Those with a rapid decline are at highest risk of poorer outcomes but may benefit most from targeted treatments including augmentation therapy. Current evidenc...
https://doi.org/10.1136/bcr-2020-239146
BMJ Case Reports; Ferrari da Cruz T, Rufino R et. al.
Mar 31st, 2021 - We describe three cases of female subjects (aged 16, 44 and 41 years) with no respiratory symptoms, who have alpha-1 antitripsyn mutation (PiSZ, PiZZ and PiZZ) and who performed traditional pulmonary function tests and the single breath nitrogen w...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7989144
BMC Pulmonary Medicine; Barjaktarevic I, Miravitlles M
Mar 24th, 2021 - Alpha-1 antitrypsin deficiency (AATD) is a significantly under-diagnosed genetic condition caused by reduced levels and/or functionality of alpha-1 antitrypsin (AAT), predisposing individuals to lung, liver or other systemic diseases. The manageme...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7938990
BMJ Case Reports; Santos GF, Ellis P et. al.
Mar 6th, 2021 - We report a 64-year-old caucasian woman diagnosed with membranous nephropathy secondary to alpha-1 antitrypsin deficiency (AATD). AATD is a rare autosomal codominant genetic disorder. Its clinical manifestations are mostly observed in the lungs, w...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7931763
BMJ Case Reports; Vuurberg NE, Van den Boom AL et. al.
Mar 4th, 2021 - Alpha-1 antitrypsin (AAT) deficiency, which is an under-recognised metabolic genetic disorder, is known to cause severe lung disease and liver cirrhosis in about 10%-15% of cases. Patients with AAT deficiency are at a higher risk for developing he...
Guidelines 3 results
https://jnccn.org/view/journals/jnccn/17/4/article-p302.xml
Benson,A.,et al
Mar 31st, 2019 - Incidence and mortality rates for cancer overall are declining, but both incidence and mortality rates for hepatocellular carcinoma (HCC) are increasing.1,2 Risk factors for development of HCC include infection with hepatitis B virus (HBV) and/or ...
https://journals.lww.com/ajg/pages/articleviewer.aspx?year=2017&issue=01000&article=00013&type=Fulltext
The American Journal of Gastroenterology; Kwo,P.,et al
Jun 30th, 2017 - Clinicians are required to assess abnormal liver chemistries on a daily basis. The most common liver chemistries ordered are serum alanine aminotransferase (ALT), aspartate aminotransferase (AST), alkaline phosphatase and bilirubin. These tests sh...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3373286
Canadian Respiratory Journal; Marciniuk DD, Hernandez P et. al.
Apr 26th, 2012 - Alpha-1 antitrypsin (A1AT) functions primarily to inhibit neutrophil elastase, and deficiency predisposes individuals to the development of chronic obstructive pulmonary disease (COPD). Severe A1AT deficiency occurs in one in 5000 to one in 5500 o...
Clinicaltrials.gov 649 results
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8018552
International Journal of Chronic Obstructive Pulmonary Di... Stockley JA, Stockley RA et. al.
Apr 7th, 2021 - It is known that lung function decline in Alpha-1 Antitrypsin Deficiency (AATD) varies. Those with a rapid decline are at highest risk of poorer outcomes but may benefit most from targeted treatments including augmentation therapy. Current evidenc...
https://doi.org/10.1136/bcr-2020-239146
BMJ Case Reports; Ferrari da Cruz T, Rufino R et. al.
Mar 31st, 2021 - We describe three cases of female subjects (aged 16, 44 and 41 years) with no respiratory symptoms, who have alpha-1 antitripsyn mutation (PiSZ, PiZZ and PiZZ) and who performed traditional pulmonary function tests and the single breath nitrogen w...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7989144
BMC Pulmonary Medicine; Barjaktarevic I, Miravitlles M
Mar 24th, 2021 - Alpha-1 antitrypsin deficiency (AATD) is a significantly under-diagnosed genetic condition caused by reduced levels and/or functionality of alpha-1 antitrypsin (AAT), predisposing individuals to lung, liver or other systemic diseases. The manageme...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7938990
BMJ Case Reports; Santos GF, Ellis P et. al.
Mar 6th, 2021 - We report a 64-year-old caucasian woman diagnosed with membranous nephropathy secondary to alpha-1 antitrypsin deficiency (AATD). AATD is a rare autosomal codominant genetic disorder. Its clinical manifestations are mostly observed in the lungs, w...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7931763
BMJ Case Reports; Vuurberg NE, Van den Boom AL et. al.
Mar 4th, 2021 - Alpha-1 antitrypsin (AAT) deficiency, which is an under-recognised metabolic genetic disorder, is known to cause severe lung disease and liver cirrhosis in about 10%-15% of cases. Patients with AAT deficiency are at a higher risk for developing he...
News 43 results
https://www.medscape.com/viewarticle/938411
Oct 1st, 2020 - NEW YORK (Reuters Health) - Ethnic differences in the frequencies of alpha-1 antitrypsin deficiency alleles might contribute to national differences in COVID-19 fatality rates, researchers report. "It was interesting to see how one point mutation ...
https://www.staging.medscape.com/viewarticle/938411
Oct 1st, 2020 - NEW YORK (Reuters Health) - Ethnic differences in the frequencies of alpha-1 antitrypsin deficiency alleles might contribute to national differences in COVID-19 fatality rates, researchers report. "It was interesting to see how one point mutation ...
https://reference.medscape.com/viewarticle/936001_3
Sep 17th, 2020 - Answer 2/5 Which of the following conditions presents in a similar way to AADC deficiency? Your peers chose: Gaucher disease 0% Mucopolysaccharidosis 0% Alpha-1 antitrypsin deficiency 0% Tetrahydrobiopterin (BH4) deficiency 0% BH4 deficiency prese...
https://jnccn.org/view/journals/jnccn/17/4/article-p302.xml
Benson,A.,et al
Mar 31st, 2019 - Incidence and mortality rates for cancer overall are declining, but both incidence and mortality rates for hepatocellular carcinoma (HCC) are increasing.1,2 Risk factors for development of HCC include infection with hepatitis B virus (HBV) and/or ...
https://www.medpagetoday.com/gastroenterology/generalhepatology/71318
Feb 22nd, 2018 - Action Points Clinical factors associated with the course of liver disease differed among children and adults with alpha-1 antitrypsin deficiency (AATD), according to a systematic review of the literature, where heterogeneity among studies preclud...