1 Department of Pediatric Pulmonology, Child Growth and Development Research Center, Faculty of Medicine, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan

2 Department of Pediatric Pulmonology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

3 Department of Pediatric Pulmonology, Child Growth and Development Research Center, Faculty of Medicine, Research Institute for Primordial Prevention of Noncommunicable Disease, Isfahan University of Medical Sciences, Isfahan,


BACKGROUND: Knowledge about cystic fibrosis (CF) in Iran is very limited. The objective of this
study was to determine the prevalence of CF among a group of high‑risk children with suggestive
clinical features in the main referral hospital in Iran.
MATERIALS AND METHODS: This study children consisted of 505 patients who had presented with
one or more of the following symptoms: chronic or recurrent respiratory symptoms, gastrointestinal
symptoms as rectal prolapse, steatorrhea, hepatobiliary disease as prolonged jaundice, failure to
thrive, hyperglycemia and glycosuria, hypochloremic metabolic alkalosis, hypoprothrombinemia,
anemia or edema, and positive family history of CF. Patients were screened using pilocarpine
iontophoresis to collect sweat and chemical analysis of its chloride content with classic Gibson and
Cooke technique.
RESULTS: Of 505 patients, 89 (17.6%) had positive sweat chloride screening test. Five (1%)
patients had required cystic fibrosis transmembrane conductive regulator protein mutation analysis
to confirm CF.
CONCLUSION: Our findings suggest that in Iran, CF is more common than what previously
anticipated. Larger studies are warranted to identify the incidence, molecular basis, and clinical
pattern of CF in the Iranian population.


1. O’Sullivan BP, Freedman SD. Cystic fibrosis. Lancet
2.     Mayell SJ,MunckA, Craig JV, SermetI, Brownlee KG, SchwarzMJ,
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;8:71‑8.
3.     Sharma GD. Cystic Fibrosis. Available from: http://www.‑overview. [Last
updated on 2012 Apr 03].
4. Mehta A. CFTR: More than just a chloride channel. Pediatr
Pulmonol 2005;39:292‑8.
5.     Cystic Fibrosis Genetic Analysis Consortium. Cystic Fibrosis
Mutation Database – CFMDB Statistics. Available from: http:// [Last
accessed on 2011 Oct 14].
6.     Vankeerberghen A. Cuppens H, Cassiman JJ. The cystic fibrosis
transmembrane conductance regulator: An intriguing protein
with pleiotropic functions. J Cyst Fibros 2002;1:13‑29.
7. Lao O, Andrés AM, Mateu E, Bertranpetit J, Calafell F. Spatial
patterns of cystic fibrosis mutation spectra in European
populations. Eur J Hum Genet 2003;11:385‑94.
8.     Walters S, Mehta A. Epidemiology of cystic fibrosis.In: Hodson M,
Geddes DM. Bush A, editors. Cystic Fibrosis. 3rd ed. London:
Edward Arnold; 2007. p. 21‑45.
9.     Nasr SZ. Cystic fibrosis in adolescents and young adults. Adolesc
Med 2000;11:589‑603.
10. World Health Organization Regional Office for the Eastern
Mediterranean, Health Status Indicators 2013, Egypt; 2013.
11.     Kamal MF, Nazer H. Cystic fibrosis in Jordan: A pilot study. Ann
Trop Paediatr 1984;4:243‑6.
12.     Najada AS, Dahabreh MM. Clinical profile of cystic fibrosis.
Atypical presentation. Saudi Med J 2010;31:185‑8.
13.     Al‑Mahroos F. Cystic fibrosis in Bahrain incidence, phenotype,
and outcome. J Trop Pediatr 1998;44:35‑9.
14.     Naguib ML, Schrijver I, Gardner P, Pique LM, Doss SS,
Abu Zekry MA, et al. Cystic fibrosis detection in high‑risk
Egyptian children and CFTR mutation analysis. J Cyst Fibros
15. Yamashiro Y, Shimizu T, Oguchi S, Shioya T, Nagata S, Ohtsuka Y.
The estimated incidence of cystic fibrosis in Japan. J Pediatr
Gastroenterol Nutr 1997;24:544‑7.
16.     Boat TF, James D. Acton, cystic fibrosis. Nelson Textbook of
Pediatrics. 18th ed., Ch. 400. Elsevier Health Sciences. 2007.
p. 1808.
17. Farrell PM, Rosenstein BJ, White TB, Accurso FJ, Castellani C,
Cutting GR, et al. Guidelines for diagnosis of cystic fibrosis in
newborns through older adults: Cystic Fibrosis Foundation
consensus report. J Pediatr 2008;153:S4‑14.
18.     Mattar AC, Gomes EN, Adde FV, Leone C, Rodrigues JC.
Comparison between classic Gibson and Cooke technique and
sweat conductivity testin patients with and without cystic fibrosis.
J Pediatr (Rio J) 2010;86:109‑14.
19.     Karjoo M, Bahremand M, Mihandoust G. Cystic fibrosis in
Southern Iran. J Trop Pediatr 1984;30:195‑6.
20.     Rawashdeh M, Manal H. Cystic fibrosis in Arabs: A prototype
from Jordan. Ann Trop Paediatr 2000;20:283‑6.
21. el‑Harith EA, Dörk T, Stuhrmann M, Abu‑Srair H, al‑Shahri A,
Keller KM, et al. Novel and characteristic CFTR mutations in
Saudi Arab children with severe cystic fibrosis. J Med Genet
22.     Farrell PM. The prevalence of cystic fibrosis in the European
Union. J Cyst Fibros 2008;7:450‑3.
23.     Nazer HM. Early diagnosis of cystic fibrosis in Jordanian children.
J Trop Pediatr 1992;38:113‑5.
24.     WHO Cause‑specific Mortality Estimates for Children Under Five;
Region‑specific Estimates, Eastern Mediterranean Region; 2001.
25. Cystic Fibrosis Foundation Patient Registry 2004, Annual Data
Report to the Center Directors. Bethesda, Maryland; 2010.
26.     Rosenstein BJ, Cutting GR. The diagnosis of cystic fibrosis: A
consensus statement. Cystic Fibrosis Foundation Consensus
Panel. J Pediatr 1998;132:589‑95.
27.     Nazer H, Rahbeeni Z. Cystic fibrosis and the liver – A Saudi
experience. Ann Trop Paediatr 1994;14:189‑94.