Cystic fibrosis detection in high-risk Egyptian children and CFTR mutation analysis

Abstract

The study results suggest that CF is more common in Egypt than previously anticipated. Larger studies are warranted to identify the incidence, molecular basis and clinical pattern of CF in the Egyptian population.

Cystic fibrosis on the African continent

“…Twelve African countries had published a total of 26 reports of molecular investigations into the cause of CF-Morocco, [38][39][40] Algeria, [41][42][43] Tunisia, 40,41,[44][45][46] Libya, 47 Egypt, [48][49][50] Sudan, 18 Rwanda, 51 Senegal, 52 Cameroon, 52,53 Namibia, 54 Zimbabwe, 55 and South Africa, 2,37,[55][56][57][58][59][60] -for a total of 2,344 chromosomes screened. Only two publications met our inclusion criteria while also screening non-CF patients; 39,58 in these instances, we included only the data obtained from the CF patients described in these publications.…”

“…In Southern Africa, published molecular reports are from Zimbabwe, Namibia, and South Africa. It should be noted that all but two of the studies 48,49 that could identify novel mutations used techniques other than, or in addition to, sequencing. Most investigations utilized less sensitive methods (e.g., polymerase chain reaction-restriction fragment-length polymorphism (PCR-RFLP); Supplementary Table S1 online) and progressed to sequencing only if there was an abnormal pattern.…”

Cystic fibrosis prevalence among a group of high-risk children in the main referral children hospital in Iran

“…[21] Naguib et al . [14] studied 61 patients who presented with persistent or recurrent respiratory symptoms, FTT, diarrhea and/or steatorrhea, and unexplained persistent jaundice. Twelve patients (20%) had positive sweat chloride test.…”

“…In contrast, reports from the North American CF Registry[2425] indicate that 40.3% of CF patients had FTT, 48.8% had respiratory symptoms, and 32.2% had abnormal stools/steatorrhea at the time of diagnosis. In a small study in Egypt,[14] all CF patients had FTT, 92% had chronic or recurrent respiratory disease, and 58% had abnormal stools. The present study did select high-risk patients with chronic illness; therefore, findings may be influenced by a delay in diagnosis or indicate a more severe disease presentation.…”

“…Naguib et al . [14] presented 61 patients who were referred from the chest unit. Patients presented with persistent or recurrent respiratory symptoms, failure to thrive (FTT), diarrhea and/or steatorrhea, and unexplained persistent jaundice.…”