Non-invasive testing for liver pathology in alpha-1 antitrypsin deficiency
نویسندگان
چکیده
منابع مشابه
Genetic Testing for Alpha-1 Antitrypsin Deficiency
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متن کاملLiver disease and alpha 1-antitrypsin deficiency.
Discovery of AAT deficiency by Laurell and Eriksson in 1963 [2] provided a foundation for current thinking about the pathogenesis of pulmonary emphysema [3,4]. Although AAT deficiency has become one of the best understood genetic disorders at a molecular and protein level, many questions about the clinical disease remain unanswered. Current American and International research projects should pr...
متن کاملAlpha- 1 Antitrypsin Deficiency in Children: Pulmonary Involvement
Introduction: α1-antitrypsin deficiency (α1-ATD) is one of the most common genetic disorders in white race, a usual cause of liver disease in children, and hepatopulmonary involvement in children and adult. The aim of this case description is presenting a child with early lung disease without liver parenchymal disorder. Case presentation: We describe a 13 year old boy because of exertional dysp...
متن کاملAlpha 1 antitrypsin deficiency.
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause severe lung and liver disease.
متن کاملRoutine genetic testing for alpha-1 antitrypsin deficiency
Mutations in the PI gene, located on chromosome 14, are associated with this genetic disorder. The most common deficiency alleles are PiS (1:9 1:12 carrier frequency among Caucasians) and the PiZ allele (1:30 1:40 carrier frequency among Caucasians). New data on the worldwide prevalence of AAT deficiency support the scientific community's impression that AAT deficiency is not a rare disease, bu...
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ژورنال
عنوان ژورنال: BMJ Open Respiratory Research
سال: 2020
ISSN: 2052-4439
DOI: 10.1136/bmjresp-2020-000820