Immunonephelometry and Reverse Hybrydization Genotyping in Diagnosis of Alpha-1-Antitrypsin Deficiency in Macedonians
نویسندگان
چکیده
منابع مشابه
Immunonephelometry and Reverse Hybrydization Genotyping in Diagnosis of Alpha-1-Antitrypsin Deficiency in Macedonians
MATERIAL AND METHODS: At the Institute of Immunobiology and Human Genetics, part of the Faculty of Medicine in Skopje, in the previous 7 years, total of 361 patients with suspected alpha-1-antitrypsin (AAT) deficiency were referred for analysis of AAT concentration using nephelometry (Dade Behring) and subsequent AAT genotyping of individuals with alpha-1antytripsin deficiency at protein level,...
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 کاملGenotyping diagnosis of alpha-1 antitrypsin deficiency in Saudi adults with liver cirrhosis
The acute phase protein alpha-1 antitrypsin (AAT) is mainly produced in liver cells. AAT deficiency affects the lungs and liver. We conducted a case-control study to define a valuable method for the proper diagnosis of alpha-1 antitrypsin deficiency (AATD), as well as the association of liver cirrhosis with AATD in Saudi adults.Blood samples from 300 liver cirrhosis patients and 400 controls we...
متن کاملAlpha-1-antitrypsin deficiency in children: clinical characteristics and diagnosis.
INTRODUCTION Alpha-1-antitrypsin deficiency (AATD) is a relatively rare and clinically very heterogeneous autosomal recessive disorder. OBJECTIVE Presentation of clinical characteristics of AATD in the first months after birth, as well as the significance of testing brothers and sisters for its presence. METHODS Objectives of the study were analyzed on a sample of eight children (four male ...
متن کاملAlpha 1 antitrypsin deficiency.
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause severe lung and liver disease.
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ژورنال
عنوان ژورنال: South East European Journal of Immunology
سال: 2015
ISSN: 1857-9388
DOI: 10.3889/seejim.2015.20004