Abstract

Objective: This study was performed to examine the demographic characteristics, clinical features and diagnostic tests of children with the diagnosis of cystic fibrosis.

Material and Methods: Presenting symptoms, complaints on admission, clinical features, and diagnostic tests for 41 children with cystic fibrosis between the age of 2 days and 4 months diagnosed at the Pediatrics clinic of Dr. Sami Ulus Maternity, Children Health and Diseases Training and Research Hospital between January 2005 and June 2012 were examined.

Results: The mean age at diagnosis was 5.2 months. There was a history of consanguinity in 61.1% of cystic fibrosis patients. Mutation analysis revealed that 75% of the children had a cystic fibrosis mutation. Gastrointestinal complaints were the most common presenting complaint (43.9%). There was no statistically significant difference between demographic characteristics, age at diagnosis, duration of complaints, hospitalization frequency, sweat test values, and mutation analysis between children presenting with gastrointestinal symptoms, respiratory tract symptoms (31.7%) and the Pseudo-Bartter clinical syndrome (24.4%).

Conclusion: Cystic fibrosis is a multisystemic disease with findings related to the respiratory system and gastrointestinal system, and patients might present with the Pseudo-Bartter syndrome as well. It should be noted that cystic fibrosis can present with different clinical presentations due to the different genotypic features in our country

Keywords: Child, Cystic fibrosis, Pseudobartter syndrome

References

  1. Davis PB. Cystic Fibrosis. Pediatr Rev 2001;22:257-64.
  2. Davis PB, Drumm M, Konstan MW. Cystic fibrosis. Am J Respir Crit Care Med 1996;154:1229-56.
  3. Wood RE, Boat TF, Doershuk CF. Cystic fibrosis. Am Rev Respir Dis 1976;113:833-78.
  4. Tutar E, Boran P, Öktem S, Akıncı Ö, İlk S, Güven S. Kistik fibrozisli Hastalarda Psödo-bartter Sendromu. Türkiye Çocuk Hast Derg 2012;4:206-10.
  5. Doğru D. Kistik fibrozisde tanı. Katkı Pediatri Dergisi 2002;23: 209-17.
  6. 6. Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis: A
  7. consensus statement. Cystic Fibrosis Foundation Consensus
  8. Panel. J Pediatr 1998;132:589-95.
  9. 7. Lai HC, Kosorok MR, Laxova A, Makholm ML, Farrell PM. Delayed
  10. diagnosis of US females with cystic fibrosis. Am J Epidemiol
  11. 2002;156:165-73.
  12. 8. Tunçbilek E, Koç I. Consanguineous marriage in Turkey and its
  13. impact on fertility and mortality. Ann Hum Genet 1994;58:321-9.
  14. 9. Karakoç F, Karadağ B, Erdoğan T, Kut A, Dağlı E. Kistik fibrozisli
  15. hastaların klinik özellikleri ve tedavi yaklaşımları. Türk Pediatri Arşivi
  16. 2002;37:19-24.
  17. 10. Fallahi G, Najafi M, Farhmand F, Bazvand F, Ahmadi M, Ahmadi F,
  18. et al. The clinical and laboratory manifestations of Iranian patients
  19. with cystic fibrosis. Turk J Pediatr 2010;52:132-8.
  20. 11. Prapphal N, Fitzpatrick SB, Getson P, Fink R, O’Donnell R, Chaney
  21. H. Cystic Fibrosis in blakcs in Washington, DC: Fifteen Years’
  22. experience. J Natl Med Assoc 1989;81:263-7.
  23. 12. Onay T, Topaloglu O, Zielenski J, Gokgoz N, Kayserilli H,
  24. Camcioglu Y, et al. Analysis of the CFTR gene in Turkish Cystic
  25. fibrosis patients. Identification of three novel mutations (3172
  26. delAC,P10113L and M110281). Hum Genet 1998;102:224-30.

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How to cite

1.
Erdem M, Zorlu P, Acar M, Şenel S. Cystic Fibrosis Evaluation of Demographic and Clinical Characteristics of Patients with Cystic Fibrosis. Turk J Pediatr Dis [Internet]. 2013 Oct. 1 [cited 2025 May 24];7(3):134-7. Available from: https://turkjpediatrdis.org/article/view/222