Articles, Issue 3/2024

Late Diagnosed Cystic Fibrosis – Three Clinical Cases from our Practice

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I. Todorova-Stefanova, M. Baycheva, V. Papochieva, N. Yaneva, S. Mileva, D. Miteva, G. Petrova


Abstract

Cystic fibrosis (CF) is a complex autosomal recessive disease, affecting the functions of the respiratory
system, digestive tract and all exocrine glands. Grace to the scientific and technical progress in medicine in most countries CF is diagnosed through neonatal screening (NS) and cases of late diagnosis are rarely
reported. In Bulgaria, the introduction of the NC for CF is pending, and to date, the discovery of new cases is mainly based on a good clinical training and focused thinking of pediatricians.
We present three cases of children diagnosed with CF relatively late. The first case is a 14-year-old girl, treated for years for asthma and allergic cough by different specialist, and only after pneumonia for which computed tomography was performed and bronchiectasis were found, the diagnosis was reassessed as CF.
The second case is of a 10-year-old boy with a chronic cough of 2 years and recurrent bronchial
obstructions, referred for evaluation of bronchial asthma. The physical exam and boy’s specific cough were our grounds for investigation and confirmation of CF.
The third case is an 11-year-old girl with chronic cough, neglected as a symptom from the parents and
the general practitioner was consulted with an endocrinologist due to short stature and possibly starting
growth hormone replacement therapy. The endocrinologist, noticing the presence of drum-stick fingers and wet cough, referred the child to a CF specialist. In the light of the availability of the new modern therapies it is required all pediatric specialists to make maximum efforts for early diagnosis of children with CF and increase awareness among doctors about this problem.
Key words: failure to thrive, bronchiectasis, neonatal screening

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Address for correspondence:

Department of Pediatrics, University Hospital “Alexandrovska” – Sofia
1, “Sv. G. Sofiisky”, Blvd.
1431, Sofia, Bulgaria
e-mail: ina.todorovastefanova@gmail.com