EPIDEMIOLOGY, DIAGNOSIS AND TREATMENT OF CYSTIC FIBROSIS IN TURKIYE: A SCOPING REVIEW
Author(s)
Mehtap Tatar, PhD.
Director, Polar Health Economics and Policy Consultancy, Ankara, Turkey.
Director, Polar Health Economics and Policy Consultancy, Ankara, Turkey.
OBJECTIVES: This scoping review aims to provide a comprehensive overview of cystic fibrosis (CF) in Türkiye. The review focuses on the epidemiology of CF, including patient demographics and clinical characteristics, as well as diagnostic approaches, treatment strategies, and the current landscape of clinical research.
METHODS: The review covered the period from 01.01.2006 to 31.05.2026. A comprehensive literature search was conducted using PubMed and Science Direct. To capture relevant evidence published in Turkish, national databases including TRDizin, Dergipark and Turkmedline were also included.
RESULTS: A total of 706 publications were identified through the keyword-based literature search. After the removal of 242 duplicate records, 464 articles remained for title and abstract screening. Following the final assessment, 395 publications were excluded. Two articles were not accessible. Ultimately, 67 articles met the eligibility criteria and were included in the final review. Turkey has included CF in the national newborn screening program (NBS) in 2015. There is also a national CF registry, recording data since 2018. Among the included studies, females accounted for approximately 40-55% of the study populations. CF was diagnosed early in life, with the reported age at diagnosis ranging from 1 to 8 months. A high prevalence of parental consanguinity was observed, varying between 30% and 70% across studies. The spectrum of CF transmembrane conductance regulator protein (CFTR) gene mutations was highly heterogeneous. Consequently, the proportion of patients eligible for CTFR modulator therapies was relatively low, ranging from 23% to 35%. Inhaled recombinant human deoxyribonuclease (rhDNase) and oral pancreatic enzyme replacement therapy were the most commonly reported therapeutic interventions.
CONCLUSIONS: The high prevalence of consanguineous marriages in Türkiye, particularly in certain regions, contributes to an increased burden of rare diseases such as CF. The national NBS program and the national CF registry are valuable tools to inform health policymakers.
METHODS: The review covered the period from 01.01.2006 to 31.05.2026. A comprehensive literature search was conducted using PubMed and Science Direct. To capture relevant evidence published in Turkish, national databases including TRDizin, Dergipark and Turkmedline were also included.
RESULTS: A total of 706 publications were identified through the keyword-based literature search. After the removal of 242 duplicate records, 464 articles remained for title and abstract screening. Following the final assessment, 395 publications were excluded. Two articles were not accessible. Ultimately, 67 articles met the eligibility criteria and were included in the final review. Turkey has included CF in the national newborn screening program (NBS) in 2015. There is also a national CF registry, recording data since 2018. Among the included studies, females accounted for approximately 40-55% of the study populations. CF was diagnosed early in life, with the reported age at diagnosis ranging from 1 to 8 months. A high prevalence of parental consanguinity was observed, varying between 30% and 70% across studies. The spectrum of CF transmembrane conductance regulator protein (CFTR) gene mutations was highly heterogeneous. Consequently, the proportion of patients eligible for CTFR modulator therapies was relatively low, ranging from 23% to 35%. Inhaled recombinant human deoxyribonuclease (rhDNase) and oral pancreatic enzyme replacement therapy were the most commonly reported therapeutic interventions.
CONCLUSIONS: The high prevalence of consanguineous marriages in Türkiye, particularly in certain regions, contributes to an increased burden of rare diseases such as CF. The national NBS program and the national CF registry are valuable tools to inform health policymakers.
Conference/Value in Health Info
2026-11, ISPOR Europe 2026, Vienna, Austria
Value in Health, Volume 29, Issue 12S
Code
EPH30
Topic
Epidemiology & Public Health
Disease
No Additional Disease & Conditions/Specialized Treatment Areas, Rare & Orphan Diseases