The Importance of Regular Follow-Up in Children With Cystic Fibrosis And Evaluation Of İnformation About Immunoreactive Trypsinogen İn Screening: A Case Report

Yıl 2019, Cilt: 7 Sayı: Ek - IRUPEC 2019 Kongresi Tam Metin Bildirileri, 321 - 324, 10.12.2019

Ahmet Emre Hatır , Sevgi Pekcan

Öz

In this study, the importance of follow-up in cystic fibrosis (CF) patients was discussed and information was evaluated about immune reactive trypsinogen (IRT) used in screening. In addition, CF should be keep in mind as a differential diagnosis in patients presenting with pseudo-bartter syndrome (PBS).
CASE: This study included two cases. The first case had normal IRT test in the newborn period. The patient presented to us with diarrhea and vomiting at the age of 3 months and was re-screened for CF, due to presence of PBS. He was diagnosed as CF despite normal screening in the neonatal period. In the second case, we investigated a patient who had CF in the neonatal screening, was not followed up by her family, then came to the hospital with the complaint of malnutrition and was diagnosed with CF at 6 months of age.

CONCLUSION:
There may be cases in which the IRT is misleading during neonatal screening. False negative result may have a probability. Although the screening test is positive, delayed diagnosis of CF may cause many complications in the later years of the patient's life.

Anahtar Kelimeler

Cystic Fibrosis

Kaynakça

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