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About 1,314 results

ALLMedicine™ Alpha-1 Antitrypsin Deficiency Center

Research & Reviews  617 results

There is No Fast Track to Identify Fast Decliners in Alpha-1 Antitrypsin Deficiency by ...
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...

Small airway evaluation in three subjects with alpha-1 antitrypsin deficiency without d...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8011716
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...

Alpha-1 antitrypsin (AAT) augmentation therapy in individuals with the PI*MZ genotype: ...
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...

Nephrotic syndrome secondary to alpha-1 antitrypsin deficiency.
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...

Intrahepatic cholangiocarcinoma in a non-cirrhotic liver in a patient with homozygous Z...
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...

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Guidelines  3 results

Guidelines Insights: Hepatobiliary Cancers, Version 2.2019
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 ...

ACG Clinical Guideline: Evaluation of Abnormal Liver Chemistries
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...

Alpha-1 antitrypsin deficiency targeted testing and augmentation therapy: a Canadian Th...
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...

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Clinicaltrials.gov  649 results

There is No Fast Track to Identify Fast Decliners in Alpha-1 Antitrypsin Deficiency by ...
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...

Small airway evaluation in three subjects with alpha-1 antitrypsin deficiency without d...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8011716
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...

Alpha-1 antitrypsin (AAT) augmentation therapy in individuals with the PI*MZ genotype: ...
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...

Nephrotic syndrome secondary to alpha-1 antitrypsin deficiency.
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...

Intrahepatic cholangiocarcinoma in a non-cirrhotic liver in a patient with homozygous Z...
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...

see more →

News  43 results

Point Mutation May Help Explain Different National COVID-19 Death Rates
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 ...

Point Mutation May Help Explain Different National COVID-19 Death Rates
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 ...

Fast Five Quiz: Aromatic L-Amino Acid Decarboxylase Deficiency Diagnosis and Management
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...

Guidelines Insights: Hepatobiliary Cancers, Version 2.2019
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 ...

AATD Liver Disease Differs in Kids, Adults
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...

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Patient Education  2 results see all →