Balkan Journal of Medical Genetics

THE SPECTRUM AND FREQUENCY OF CYSTIC FIBROSIS MUTATIONS IN ALBANIAN PATIENTS
Kasmi I, Kasmi G, Basholli B, Sefa HS, Vevecka E
*Corresponding Author: Ass. Prof. Irena Kasmi, Pediatric Clinic, Pediatric Department, University Hospital Center “Mother Teresa”, Tirana, Albania. Address: Street Dibra 372, Tirana, Albania. Tel: + 355 67 2066175, E-mail: irenakasmi@hotmail.com
page: 31

INTRODUCTION

Cystic fibrosis (CF) is a genetic multisystem dis- ease resulting from the inheritance of a mutant allele of the gene for cystic fibrosis transmembrane conductance regulator (CFTR) from each parent. Cystic fibrosis (CF) is the most common life shortening condition in Caucasians [1]. About 162,428 people are estimated to be living with CF worldwide, of which 37,002 are estimated to be diag- nosed in North America and more than 47,650 in Europe, while an estimated 57,076 CF patients are undiagnosed. [2]. Whilst prevalence is broadly similar in populations which had their origin from northern Europe, there are considerable variations through Europe from as high as 1 in 1,400 live births in Ireland, 1 in 4,200 in Italy and 1 in 25,000 in Finland [3]. Prevalence rates are much lower among non-Caucasian populations [4,5]. A major step forward was achieved by grouping CFTR mutations with a similar effect on CFTR protein synthesis or function in the same mutation class [3]. In view of drug development and drug distribution, it is there- fore also useful to know the relative prevalence of these mutation classes [3]. In Albania since 1992, cystic fibrosis patients are fol- lowed up by the Department of Pediatrics, in UHCMT. The CF diagnosis is based predominantly on clinical criteria and two positive sweat test results for patients suspected of the disease. The diagnosis is confirmed by the identification of two CF causal mutations. Genetic assessment has been in practice since 2004, when the search of the genetic muta- tions in patients with cystic fibrosis began to be recorded. Unfortunately, there was no national registry for Cystic Fibrosis in Albania until 2017. However, every pediatric patient diagnosed in the Department of Pediat- rics in the UHCMT has been documented throughout the course of the disease. Practically, this is the only center which diagnoses and follows cystic fibrosis patients in our country. Since 2017 Albania is part of the European Cystic Fibrosis Society Patient Registry (ECFSPR) which collects anonymized demographic and clinical data from consenting people in Europe with CF [6]. The aim of this paper is to present a summary of the distribution of the CFTR mutations in 133 CF patients diagnosed in the Pediatrics Department in the UHCMT. Furthermore, we aim to compare our data with other coun- tries in Balkan Peninsula and Europe.

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