Profile of cystic fibrosis in a single referral center in Egypt

• Published in: Journal of advanced research Vol. 5; no. 5; pp. 563 - 568
• Main Authors: El-Falaki, Mona M., Shahin, Walaa A., El-Basha, Noussa R., Ali, Aliaa A., Mehaney, Dina A., El-Attar, Mona M.
• Format: Journal Article
• Language: English
• Published: Egypt Elsevier B.V 01.09.2014; Elsevier
• Subjects: Children; Egypt; Original; Sweat chloride; ΔF508 mutation; Sweat chloride; CF; Children; ΔF508 mutation; Egypt
• ISSN: 2090-1232; 2090-1224
• DOI: 10.1016/j.jare.2013.07.005

It was generally believed that Cystic fibrosis (CF) is rare among Arabs; however, the few studies available from Egypt and other Arabic countries suggested the presence of many undiagnosed patients. The aim of the present study was to determine the frequency of CF patients out of the referred cases in a single referral hospital in Egypt. A total of 100 patients clinically suspected of having CF were recruited from the CF clinic of the Allergy and Pulmonology Unit, Children’s Hospital, Cairo University, Egypt, throughout a 2year period. Sweat chloride testing was done for all patients using the Wescor macroduct system for collection of sweat. Quantitative analysis for chloride was then done by the thiocyanate colorimetric method. Patients positive for sweat chloride (⩾60mmol/L) were tested for the ΔF508 mutation using primer specific PCR for cystic fibrosis transmembrane conductance regulator (CFTR) gene. Thirty-six patients (36%) had a positive sweat chloride test. The main clinical presentations in patients were chronic cough in 32 (88.9%), failure to thrive in 27 (75%), steatorrhea in 24 (66.7%), and hepatobiliary involvement in 5 (13.9%). Positive consanguinity was reported in 50% of CF patients. Thirty-two patients were screened for ΔF508 mutation. Positive ΔF508 mutation was detected in 22 (68.8%) patients, 8 (25%) were homozygous, 14 (43.8%) were heterozygous, and 10 (31.3%) tested were negative. CF was diagnosed in more than third of patients suspected of having the disease on clinical grounds. This high frequency of CF among referred patients indicates that a high index of suspicion and an increasing availability of diagnostic tests lead to the identification of a higher number of affected individuals.