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ISSN 1561-3119 (Electronic)

2017, Number 2

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Rev Cubana Pediatr 2017; 89 (2)

Clinical and genetic characterization of cystic fibrosis in Holguin province

Santana HEE, Tamayo CVJ, Collazo MT, López RI, Feria EF, Rodríguez CF

Language: Spanish
References: 22
Page: 136-144
PDF size: 203.68 Kb.


ABSTRACT

Introduction: Cystic fibrosis is one type of genetic disease characterized by chronic pulmonary alterations, exocrine pancreatic failure and high concentration of electrolytes in sweat. It is caused by mutations in CFTR gene that codes for a chlorine channel called transmembrane conductance regulator protein (CFTR) located in chromosome 7. It is a hereditary recessive autosomal disease and expresses great clinical and genetic heterogeneity.
Objective: To describe the main clinical and genetic characteristics of patients with cystic fibrosis in Holguin province.
Methods: A case-series descriptive study was conducted in a sample of 22 patients with clinical and molecular diagnosis of cystic fibrosis from Holguin province in the period of January 2009 through January 2016.
Results: Males predominated, 15 diagnosed patients aged 6 to 10 years, 81.8 % of the sample presented with chronic respiratory manifestations and the most frequently associated sign was malnutrition in 14 patients (63.6 %). The compound heterozygotes accounted for 59.09 % and the homozygotes for 40.9 %; homozygotic ΔF508 mutation affected 4 patients whereas compound heterozygotic form was seen in 7, representing 31.8 %.
Conclusions:The most found mutation is ΔF508 deletion and the predominant clinical manifestation is chronic respiratory disease. The patients with homozygotic ΔF508 mutation were the most clinically affected persons.


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