Diagnostic methods in cystic fibrosis in childhood

Abstract

Cystic fibrosis is a rare autosomal-recessive multisystem disease characterized by a chronic progressive course and significant morbidity from early childhood. Early diagnosis is crucial, as it enables timely initiation of comprehensive therapy and improves long-term outcomes. Diagnosis requires clinical features together with evidence of CFTR dysfunction, demonstrated by sweat testing, genetic analysis, and, in selected cases, functional electrophysiologic methods. This review summarizes current diagnostic approaches in pediatric cystic fibrosis, with particular emphasis on pulmonary function testing, imaging techniques, and future perspectives for newborn screening implementation in Bulgaria.

Key words: cystic fibrosis, CFTR, sweat test, newborn screening, genetic testing, imaging, pulmonary function tests

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Address for correspondence:

Prof. Gergana Petrova Stoyanova, MD, PhD

Department of Pediatrics,
Alexandrovska University Hospital

1 St. Georgi Sofiyski St., 1431 Sofia, Bulgaria

E-mail: gstoyanova@medfac.mu-sofia.bg