Abstract

MALAMBO, Dacia et al. Some hereditary and environmental aspects in cystic fibrosis cases from Cartagena (Colombia). Salud, Barranquilla [online]. 2008, vol.24, n.1, pp.10-22. ISSN 0120-5552.

Objective: Describe characteristics of hereditary transmissión diseases in families in Cartagena (Colombia) also analysing some environmental factors that might ayect the evolution and or severity of this diseases. Materials and methods: Twenty-two patients distributed into 16 families attending to the Universidad de Cartagena´s Integral attention program for CF families were studied. Information about family house conditions was collected; some inherited phenotype aspects were evaluated, and genealogy trees were constructed for this disease. Results: Our pedigree analysis reveals the next issues: first, caucasian traits in affected individuals are present in eight families (67%); second, european ancestors are reported in five families (42%); third, inbreeding was detected in two families (17%). Thirty three percent of these families are living in bad housing conditions. Conclusions: Between relatives of cystic fibrosis patients from Cartagena it is verified the autosomal recessive hereditary transmission, it is confirmed the crossbreeding inside our population. The relapse of patients and the blood relationship in several families reveal the lack of genetic counseling and inadequate knowledge about the evolution of the disease between the members of the families. These results could be the starting point of larger studies that serve as a foundation of politics tending to reduce the frequency and severity of the disease in a local and national level.

Keywords : Cystic fibrosis; Cartagena; pedigree; environmental conditions.

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