Abstract

Cystic fibrosis in Uruguay

Author(s): Gerardo Luzardo, Isabel Aznarez, Beatriz Crispino, Adriana Mimbacas, Liria Mart�­nez, Rossana Poggio, Julian Zielenski, Lap-Chee Tsui and Horacio Cardoso

We conducted clinical and genetic analyses of 52 cystic fibrosis (CF) patients in Uruguay, which is about half of the known affected individuals in the country. A relatively high proportion had a mild presentation, characterized by pancreatic sufficiency (28%), a strong pulmonary component (97%), and borderline sweat electrolyte measurements (25%). Mutational analysis of CF chromosomes demonstrated a relatively low incidence of the ΔF508 allele (40%) and a large number of other cystic fibrosis conductance regulator mutations, with an overall detection rate of about 71%. Fifteen different mutations were detected in our patients: ΔF508, G542X, R1162X, G85E, N1303K, R334W, R75Q, R74W, D1270N, W1282X, ΔI507, 2789+5G→A, R1066C, -816C/T, R553X, as well as RNA splicing variant IVS8-5T. This group of Uruguayan CF patients has some characteristics in common with other populations of similar origin (Hispanics), as well as some unique characteristics.

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