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2018, Number 2

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Rev Cub Gen 2018; 12 (2)

Clinical, genetic and epidemiological characterization of Cystic Fibrosis in Pinar del Río

Licourt OD, Travieso TA, Orraca CM, Cabrera RN, Sainz PL

Language: Spanish
References: 16
Page: 1-16
PDF size: 501.77 Kb.


ABSTRACT

Introduction: Cystic Fibrosis is a genetic disease of autosomal recessive inheritance, characterized by dysfunction of exocrine secretion glands.
Objective: to describe the clinical, genetic and epidemiological characteristics of Cystic Fibrosis.
Methods: a descriptive, observational, cross-sectional study was conducted that included the 9 patients diagnosed with Cystic Fibrosis until December 31, 2016 in Pinar del Río. The frequency of prenatal ultrasonographic signs, age and manifestations at diagnosis, nutritional assessment and types of mutations were estimated. The prevalence in the population of the province and according to sex, frequency of heterozygote and the lethality rate were calculated.
Results: 33.3% showed some prenatal ultrasonographic sign related to the disease. The age at diagnosis was between 3 and 48 months. At the onset of the disease the 33.3%, mixed respiratory and digestive signs predominated. In7 cases the ΔF508 mutation was found in the form of compound heterozygote. The prevalence rate was 1.2x100000 inhabitants; the frequency of heterozygote in the population is 7.3%.
Conclusions: it is necessary to know precisely the epidemiological aspects of the entity in order to take the most effective measures for a better quality of life and greater survival.


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