Salaudeen Al-awwal Taye, Adrian Oskar Chojnacki

CYSTIC FIBROSIS IN 10 YEARS OLD CHILDREN

Pediatrics Department #2

Scientific Supervisor: Associate Professor PhD Furdela V.B

I. Horbachevsky Ternopil State Medical University

Ternopil, Ukraine

INTRODUCTION: Cystic fibrosis is inherited disease present with chronic airway obstruction, malabsorption and failure to thrive. All the existing glands in the body especially those in the respiratory and gastrointestinal system are involved and produce abnormal mucus.

CASE REPORT: A 10 y old boy was brought to children hospital in Ternopil region in with exacerbation of cough and respiratory disorders with large greenish sputum. He was reported to suffer vomit after feeding and excessive stool from first month of life and was hospitalised for proper check and medications. From the first months of life – frequent respiratory episodes and recurrent pneumonias. At present he was admitted to the hospital with cough exacerbation accompanied. He is physically retarded: height 124 cm (-2σ), and wasted: weight 24 kg, BMI=13 kg/m² (less than 5 percentale). On clinical examination: acrocyanosis, less active, clubbed cyanotic fingers, round big abdomen, heart sound very loud at apex, with systolic murmur at Erb’s point; pulse rate 86 bits per min, respiratory rate 26 per min; presence of crackle sound on all point of lungs auscultation. On percussion of lungs bandbox sound is present in upper parts and dullness in lower lobes bilaterally. Therefore, the rarer genetic disease was suspect. On genetic testing there was presence of mutation in both copies of the gene transmembrane conductance regulator protein, (single deletion at 508 position of protein) (F508) which confirmed the diagnosis Cystic fibrosis. He is currently undergoing several symptomatic treatments to improve his quality of life.

CONCLUSION: Cystic Fibrosis should therefore be very considered and made known to upcoming couples as an important characteristic for suspecting rare genetic dangerous diseases.