Demographic, Clinical and Laboratory Indicators of Patients with Cystic Fibrosis Referred to Imam Hossein Children's Hospital

Document Type : Original Article (s)

Authors

1 Assistant Professor, Department of Pediatric, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

2 Resident, Department of Pediatric, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

3 Associate Professor, Department of Pediatrics, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran

Abstract

Background: Cystic fibrosis (CF) is a deadly genetic disease that causes various symptoms and complications. This study aimed to evaluate the demographic, clinical and para clinical characteristics among patients with CF.
Methods: This cross-sectional study was performed in Imam Hossein (AS) Children's Hospital for one year, from February 1, 2017 to February 1, 2018. About 100 patients referred to Imam Hossein (AS) Children's Hospital in Isfahan diagnosed of cystic fibrosis were included in the study, and all demographic, clinical and laboratory information of the patients was recorded.
Findings: Among the CF patients in this study 58% were boys and 42% girls. The average age of the patients was 102 months and within the age range of 5-15 years. The average age of children with CF at the time of diagnosis was 15 months. Around 62% of patients in whom expiratory volume was measured by pressure in one second showed mild involvement, 28% moderate involvement and 10% severe involvement. Gastroesophageal reflux disease (GERD) with 26%, nasal polyp and asthma with relative frequency of 13% and 10%, respectively, were the most common complications among CF patients. Only 18% of CF patients had done genetic testing. Only one patient in the present study used Dornaz alfa. In terms of longevity, only 5% of patients were over
18 years old.
Conclusion: Compared to developed countries that have newborn screening, patients with CF in this study were diagnosed late. Also, CF patients benefited less from the primary drugs that control the disease, and had a shorter lifespan.

Keywords

References

  1. Kanavakis E, Efthymiadou A, Strofalis S, Doudounakis S, Traeger-Synodinos J, Tzetis M. Cystic fibrosis in Greece: molecular diagnosis, haplotypes, prenatal diagnosis and carrier identification amongst high-risk individuals. Clin Genet 2003; 63(5): 400-9.
  2. CF transmembrane conductance regulator [Homo sapiens (human)]. [Online]. [cited 2022 Nov 12]; Available from: URL:

https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=DetailsSearch&Term=1080

  1. Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science 1989; 245(4922): 1066-73.
  2. O'Sullivan BP, Freedman SD. Cystic fibrosis. Lancet 2009; 373(9678): 1891-904.
  3. Mayell SJ, Munck A, Craig JV, Sermet I, Brownlee KG, Schwarz MJ, et al. A European consensus for the evaluation and management of infants with an equivocal diagnosis following newborn screening for
    cystic fibrosis. J Cyst Fibros 2009; 8(1): 71-8.
  4. Rowe SM, Miller S, Sorscher EJ. Cystic fibrosis. N Engl J Med 2005; 352(19): 1992-2001.
  5. Fanen P, Wohlhuter-Haddad A, Hinzpeter A. Genetics of cystic fibrosis: CFTR mutation classifications toward genotype-based CF therapies. Int J Biochem Cell Biol 2014; 52: 94-102.
  6. Bongiovanni A, Manti S, Parisi GF, Papale M, Mulè E, Rotolo N, et al. Focus on gastroesophageal reflux disease in patients with cystic fibrosis. World J Gastroenterol 2020; 26(41): 6322-34.
  7. Turcios NL. Cystic fibrosis lung disease: An overview. Respir Care 2020; 65(2): 233-51.
  8. Madácsy T, Pallagi P, Maleth J. Cystic fibrosis of the pancreas: the role of CFTR channel in the regulation of intracellular Ca2+ signaling and mitochondrial function in the exocrine pancreas. Front Physiol 2018; 9: 1585.
  9. Brownell JN, Bashaw H, Stallings VA. Growth and nutrition in cystic fibrosis. Semin Respir Crit Care Med 2019; 40(6): 775-91.
  10. Safi C, Zheng Z, Dimango E, Keating C, Gudis DA.
    Chronic rhinosinusitis in cystic fibrosis: diagnosis and medical management. Med Sci (Basel) 2019; 7(2): 32.
  11. Ley D, Turck D. Digestive outcomes in cystic fibrosis. Best Pract Res Clin Gastroenterol 2022;
    56-57: 101788.
  12. Gabel ME, Galante GJ, Freedman SD. Gastrointestinal and Hepatobiliary Disease in cystic fibrosis. Semin Respir Crit Care Med 2019; 40(6): 825-41.
  13. Granados A, Chan CL, Ode KL, Moheet A, Moran A, Holl R. Cystic fibrosis related diabetes: Pathophysiology, screening and diagnosis. J Cyst Fibros 2019; 18(Suppl 2): S3-9.
  14. Prasad R. Molecular and functional basis of cystic fibrosis in Indian patients: Genetic, diagnostic and therapeutic implications. Ann Natl Acad Med Sci (India) 2018; 54(4): 216-30.
  15. Prasad R. Use of potentiators and correctors to rescue the various effects of mutations in cystic fibrosis.
    J Gene Therapy Res 2018; 2018: 1-11.
  16. Duckers J, Lesher B, Thorat T, Lucas E, McGarry LJ, Chandarana K, et al. Real-world outcomes of ivacaftor treatment in people with cystic fibrosis: A systematic review. J Clin Med 2021; 10(7): 1527.
  17. Aghamohammadi A, Keivanfar M, Navaei S, Shirzadi R, Masiha F, Allameh Z, et al. First cystic
    fibrosis patient registry annual data report-cystic fibrosis foundation of Iran. Acta Med Iran 2019; 57(1): 33-41.
  18. Castellani C, Linnane B, Pranke I, Cresta F, Sermet-Gaudelus I, Peckham D. Cystic Fibrosis Diagnosis in Newborns, Children, and Adults. Semin Respir Crit Care Med 2019; 40(6): 701-14.
  19. Cystic Fibrosis Fundation. Patient Registry 2019 Annual Data Report Bethesda. [Online]. [cited 2020 Sep]; Available from: URL:

https://www.cff.org/about-us/annual-report

  1. Keogh RH, Szczeniak R, Taylor-Robinson D, Bilton D. Up-to date and projected estimates of suruival for people with cyctic Fibrosis vsing baseline characteristics: A longidinal study using vk Patient registry data. J Cyst Fibros 2018; 17(2): 218-27.
  2. Durda-Masny M, Goździk-Spychalska J, John A, Czaiński W, Stróżewska W, Pawłowska N. et al. The determinants of survival among adults with cystic fibrosis-a cohort study. J Physiol Anthropol 2021; 40(1): 19.
  3. Moreno RMG, García-Clemente M, Diab-Cáceres L, Martínez-Vergara A, Martínez-García MÁ, Gómez-Punter RM, et al. Treatment of pulmonary disease of cystic fibrosis: a comprehensive review. Antibiotics (Basel) 2021; 10(5): 486.
Journal of Isfahan Medical School
Volume 40, Issue 689
1st Week, December
November and December 2022
Pages 775-782

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