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

Year 2019, Volume: 7 Issue: Ek - IRUPEC 2019 Kongresi Tam Metin Bildirileri, 321 - 324, 10.12.2019

Ahmet Emre Hatır , Sevgi Pekcan

Abstract

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.

Keywords

Cystic Fibrosis

References

• References 1- Kliegman RM, St. GEME JW, Blum NJ et al, Nelson Textbook of Pediatrics, 21th Edition, Elsevier; 2019; p. 2282-6 2- Bartter FC, Pronove P, Gill JR, MacCardle RC. Hyperplasia of the juxtaglomerular complex with hyperaldosteronism and hypokalemic alkalosis. A new syndrome. Am J Med 1962;33:811-28. 3- Vilotijević‐Dautović G, Stojanović V. Pseudo‐Bartter's Syndrome in patients with cystic fibrosis: a case series and review of the literature. Srp Arh Celok Lek. 2015;143(11–12):748‐751. 4- Fustik S, Pop-Jordanova N, Slaveska N, Koceva S, Efremov G. Metabolic alkalosis with hypoelectrolytemia in infants with cystic fibrosis. Pediatr ınt 2002;44:289-92. 5- Ersu R, Çakır E. Kistik Fibrozis Yenidoğan Tarama Testi ile Tanı Alan Hastaları İzleme Rehberi. Ankara: T.C. Sağlık Bakanlığı Türkiye Halk Sağlığı Kurumu; 2015:6. 6- Rock MJ et. al. Factors Accounting for a Missed Diagnosis of Cystic Fibrosis After Newborn Screening 2011; 46(12): 1166–1174 7- Padoan, R., Genoni, S., Moretti, E., Seia, M., Giunta, A., & Corbetta, C., Genetic and clinical features of false-negative infants in a neonatal screening programme for cystic fibrosis. Acta Paediatrica 2007; 91(1), 82–87. 8- Sermet-Gaudelus I, Brouard J, Audrézet M et al, Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening. Archives de Pédiatrie 2017; 24(12), e1–e14.