Newborn screening for CF: first tree years experience in Hacettepe University

Aim of this study is to evaluate clinical, radiological, microbiological and genetic properties of CF patients who refered for sweat test due to IRT positivity and diagnosed as CF.Of the 945 IRT/IRT positivity in 2015-2018, 30 patients (p)were diagnosed CF. The mean diagnostic age 1.5 m(1-3). At the time of diagnosis, malnutrition was present in 15. In 27 patients vitA, in 15 vitE and in 14 vitD deficiency detected. Anemia was present in 8(27%). Pseudo-Bartter's syndrome(PBS) was detected in 5. Antibiotic treatment was started in 5 infants because of respiratory infections. Salt, vitamins, and chest physiotherapy started for all, PERT recommended for 24/30. At the diagnosis 15 had malnutrition, Staphylococcus aureus (SA) was detected in 10 and 9 were colonized with SA in the follow-up. Non had Pseudomonas aeruginosa (PA) at the time of diagnosis but there were seen in 7 in the follow-up. Pa eradicated in those succesfully and none had Pa colonization during follow-up. In the follow-up:12 patients’ malnutriton was improved, althought salt tx, 14 p were diagnosed PBS. In 9 p Acinetobacter baumannii and in 6 Stenotrophomonas maltophilia detected. Two accepted as CRMS.As a conclusion nutrition status of CF patients even at very early stages of disease are affected. Malnutrition was present at half and all of the them had at least one vit deficiency. Recognition of anemia in early infancy is important for growth and development. Exposure of young children to infectious agent...
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Paediatric bronchology Source Type: research