Fibrosis quísticadetección bioquímica y diagnóstico molecular
- Tegra Barreiro Martínez 1
- José Luis Marín Soria 2
- 1 Servicio de Análisis Clínicos, Hospital Universitario de Santiago de Compostela
- 2 Sección Errores Congénitos del Metabolismo, Laboratorio de Cribado Neonatal, Servicio de Bioquímica y Genética Molecular, Hospital Clinic, Barcelona
ISSN: 1888-4008
Year of publication: 2015
Volume: 8
Issue: 2
Pages: 82-91
Type: Article
More publications in: Revista del laboratorio clínico
Sustainable development goals
Abstract
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.