Abstract

DYCE GORDON, Elisa; FERNANDEZ PADRON, Ángel  and  AVILES ALVAREZ, Adela. Clinical and genetical aspects of the cystic fibrosis. AMC [online]. 2001, vol.5, n.1. ISSN 1025-0255.

To describe some clinical and genetic aspects of Cystic Fibrosis, a descriptive study on 35 fibrocystic patients registered by the Cystic Fibrosis Provincial comision since 1977 to 1995, througth clinical records review and parents interview was carried out. Respiratory symptoms were the most frequent 91.42% (N=32) of patients, initiated the disease during the firts year of life, and 17 of them are already deceased. Most of the patients disd during the lactation period 25% of all the studied chromosomes carried de major mutation (A F 508) and the presence of this mutation, ever in the heterocygotes was associated with the most severe clinical manifestations that lead the affected children to death before five years 74.19% of couples risk received genetic counselling. Five out of them subsequent pregnancy termination of one of them. In inclusion, Cystic Fibrosis continues being fatal in our milietr, that is why early diagnosis and treatment are necessary, as well as genetic couselling must be improved and molecular characterization of fibrocystic families must be don with aim of preventing the disease.

Keywords : CYSTIC FIBROSIS; GENETICS; SYMPTOMS CLINICAL.

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