Research Article
Volume 9 Issue 7 - 2020
Birth Defects among Patients with Cystic Fibrosis
N Rohovyk1*, N Kitsera2, L Bober3, H Makuh2, O Marushchak1 and M Rohovyk4
1Danylo Halytsky Lviv National Medical University, Ukraine
2Institute of Hereditary Pathology of the National Academy of Medical Sciences of Ukraine, Lviv, Ukrai
3Western Ukrainian Specialized Children’s Medical Centre, Lviv, Ukraine
4Helsingborgs hospital, Helsinborg, Sweden
*Corresponding Author: N Rohovyk, Danylo Halytsky National Medical University, Ukraine.
Received: June 10, 2020; Published: June 24, 2020


Introduction: Cystic fibrosis (СF) is an inherited disorder that characterized severe damage to the lungs, digestive system and other organs in the body. It is caused by mutations of the gene for the cystic fibrosis transmembrane conductance regulator (CFTR) protein. The incidence of CF is one case per 2500 live births in Caucasians. The prevalence of CF in Ukraine is 1: 8400 and in the western part of it is 1:5917. Birth defect (BD) is structural or functional anomaly of the body that affects 1 in every 33 babies born. The frequency of BD in Ukraine is 3 - 5% of general amount newborns.

The Aim of the Research: to analyze and calculate the frequency of birth defects among patients with CF.

Methods: The study includes 181 CF patients from different regions of Ukraine, which monitored in Western Ukrainian Specialized Children’s Medical Centre, Lviv Cystic Fibrosis Center. All of them had the identification of gene of cystic fibrosis transmembrane conductance regulator (CFTR) in the Institute of Hereditary Pathology of the Ukrainian Academy of Medical Sciences (Lviv). BD diagnose was made among CF patients according to international classification of diseases 10th edition (ICD-10) and chapter XVII code Q.

Results: BD were registered in CF patients more frequently (8,2%) than in general population (3 - 5%) in Ukraine. It was occurred more often in females than in males (11.62% vs 5.26%). The most frequent CFTR mutations among CF patients with BD were homozygous F508del and compound heterozygotes F508del/G542х. CF patients has the same prevalence of such BD as hepatobiliary and congenital heart defects that were registered in 4 (27%).

Methods: BD in CF patients are more common than in general population in Ukraine. It makes many problems because of combination in one child two severe disease that makes shortness of life and serious prognosis. To study deeper of prevalence and appearance mechanisms will help to find humanity options for prevention and prognosis.

Keywords: Cystic Fibrosis (СF); Cystic Fibrosis Membrane Conductance Regulator (CFTR); Birth defects (BD); Mutation F508del


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Citation: N Rohovyk., et al. “Birth Defects among Patients with Cystic Fibrosis”. EC Paediatrics 9.7 (2020): 77-81.

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