کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2578069 1129975 2015 10 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Fibrosis quística: detección bioquímica y diagnóstico molecular
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی بیوشیمی بالینی
پیش نمایش صفحه اول مقاله
Fibrosis quística: detección bioquímica y diagnóstico molecular
چکیده انگلیسی
Cystic fibrosis is the most severe common autosomal recessive disease in caucasian population. Its prevalence in countries of Western Europe is one case in 2.000-6.000 live births. Patients develop a chronic, progressive lung disease, which is the most common cause of morbidity and mortality. In 85% of cases there is also pancreatic insufficiency. Hepatobiliary and genitourinary disorders and azoospermia are frequent, although lung symptoms and pancreatic insufficiency determine the severity of the disease. It is a genetic disease caused by defects in the CFTR gene (Cystic Fibrosis Transmembrane Conductance Regulator). To date more than 1900 mutations have been reported. Diagnosis of the disease is essentially clinical and confirmation is made by the detection of high levels of sweat chloride and the identification of mutations in the CFTR gene.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Revista del Laboratorio Clínico - Volume 8, Issue 2, April–June 2015, Pages 82-91
نویسندگان
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