نتایج جستجو برای: alpha 1 antitrypsin deficiency

تعداد نتایج: 2980168  

Mitra Samareh Fekri Mohammad Rahmatian, Nasrin Bazargan Harandi Nasrollah Jamshidi Gohari, Sayed Mehdi Hashemi Bajgani,

Background: One of the genetic risk factors for chronic obstructive pulmonary disease (COPD) is deficiency of Alpha-1 Antitrypsin (A1AT). There is no exact statistics about the prevalence of this disease in different regions of Iran. The present study aimed to determine the prevalence of alpha-1 antitrypsin (A1AT) deficiency in COPD patients in Kerman, Iran. Metho...

Journal: :GE Portuguese Journal of Gastroenterology 2023

Alpha-1 antitrypsin deficiency (AATD) is one of the most common genetic diseases and caused by mutations in SERPINA1 gene. The homozygous Pi*Z variant responsible for majority classic severe form alpha-1 deficiency, which characterized markedly decreased levels serum (AAT) with a strong predisposition to lung liver disease. diagnosis early treatment AATD-associated disease are challenges clinic...

Journal: :Chronic Obstructive Pulmonary Diseases: Journal of the COPD Foundation 2019

2017
Andrew W Wang Kimberly Newton Karen Kling

We describe the rare instance of concomitant biliary atresia and alpha-1-antitrypsin deficiency and the first documented successful portoenterostomy in this scenario. The potential for dual pathology must be recognized and underscores that prompt diagnosis of biliary atresia, despite concomitant alpha-1-antitrypsin deficiency, is essential to afford potential longstanding native liver function.

Journal: :Chronic Obstructive Pulmonary Diseases: Journal of the COPD Foundation 2018

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