Balkan Journal of Medical Genetics

DETERMINATION OF CYSTIC FIBROSIS MUTATION FREQUENCY IN PRETERM AND TERM NEONATES WITH RESPIRATORY TRACT PROBLEMS
Tanriverdi S1, Polat M, Onay H
*Corresponding Author: Sema Tanriverdi, M.D., Assistant Professor, Department of Pediatrics, Division of Neonatology, Manisa Celal Bayar University Medical School, Uncubozkoy, 45030 Yunusemre, Manisa, Turkey. Tel: +90-236-236-0330. Fax: +90-236-233-8040. E-mail: sema.tanriverdi@cbu.edu.tr
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INTRODUCTION

Cystic fibrosis (CF) is an autosomal recessive genetic desease that affects all systems with epithelial surfaces, including the lungs, pancreas, glands that secrete mucus in the intestines, liver and sweat glands. It has a high mortality and morbidity, and develops as a result of the mutation of CF transmembrane conductance regulator (CFTR) gene [1,2]. Cystic fibrosis is characterized by recurrent lung infections, exocrine pancreatic insufficiency, and elevated levels of sweat chloride. It may present with mild or atypical symptoms. Therefore, clinicians should be aware of the possibility of CF, even if there are only a few of these features. Diagnosis of CF is based on the finding of genetic and/or functional abnormalities in the CFTR gene. Functional criteria and genetic analysis are required in cases with mild clinical symptoms or normal or borderline sweat chloride levels. A CFTR-related disorder is a clinical disease restricted to a single organ system with CFTR dys-functions and without complete genetic or functional criteria. Isolated obstructive azoospermia, chronic sinusitis, chronic pancreatitis can be seen in CFTRrelated disorder. Patients should be followed-up to prevent the emergence of new disease symptoms and to provide genetic counseling [3,4]. Metabolic syndrome associated with CFTR is a temporary diagnosis and requires followup. The patient is usually an asymptomatic infant with positive neonatal screening results. In some cases, although the disease is usually mild, the clinical characteristics of CF may continue to develop along with a positive sweat test. Symptoms of CFTR-related disease, including isolated male infertility, may develop or the disease may remain completely asymptomatic. The onset of clinical symptoms varies widely due to differences in the CFTR genotype and other individual factors. Even in the absence of symptoms, respiratory function abnormalities can often be detected [5]. In this study, we aimed to determine the frequency of CF mutations, and also new mutations on the CFTR gene in neonates with respiratory distress.

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