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

CONCLUSIONS

This information suggests that most of these patients can benefit from new modulatory therapies targeting CFTR mutations, which translates to very hopeful prospects for these patients [18, 19]. The Albanian population would benefit from Cystic Fibrosis neonatal screening, since out- comes can be improved by early diagnosis. Despite a lack of discussion on the topic of a neonatal screening program, it is crucial to improve diagnosis and allowing optimal treatment of patients with CF before overt disease progression sets in. Declaration of Interest. The authors report no con- flicts of interest. The authors alone are responsible for the content and writing of this article.

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