Resumo

ORTIGOSA, Luis. Cystic fibrosis: Diagnosis. Colomb. Med. [online]. 2007, vol.38, n.1, suppl.1, pp.41-49. ISSN 1657-9534.

Cystic fibrosis (CF) is one of the most frequent inherited mortal diseases in Caucasian population. Dysfunction in exocrine glands is described in CF patients, with severe pancreatic insufficiency and chronic lung disease. CF is inherited as an autosomal recessive disorder. More than 1000 disease-associated mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been described. DF508 mutation is the most common mutation in the CF gen. Diagnosis in CF is based on clinical and laboratory tests findings. Meconial ileus, CF in other relatives, chronic lung disease, congenital absence of the vas deferens with azoospermia are among other clinical findings, main criteria in CF patients. Two positive results in sweat chloride test , or demonstration in nasal epithelial ionic transport alteration (nasal potential difference) and identification of two CF mutations in the patient are laboratory findings in CF.

Palavras-chave : Cystic fibrosis; Sweat test; Nasal potential difference; CFTR; DF508 mutation.

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