ALLMedicine™ Alpha-1 Antitrypsin Deficiency Center

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...

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...

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...

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...

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...

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 ...

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...

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...

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...

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...

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...

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...

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...

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 ...

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 ...

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...

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 ...

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...