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Sudan J Paed. 2014; 14(1): 39-44


Cystic fibrosis in Sudanese children: First report of 35 cases.

Salah A Ibrahim; Munadhil A Fadl Elmola; Zain A Karrar; Ali M E Arabi; Mohamed A Abdullah; Sulafa K Ali; Fathelrahman Elawad; Tag Elsir A Ali; Mashair B Abdulrahman; Salma O Ahmed; Abelrazzag S Gundi.

Abstract
Cystic fibrosis is the most common severe genetic disorder among children of European descent. It is much less common in Africans and Asians. It affects most critically the lungs causing chronic lung disease, failure to thrive and social deprivation. This is a retrospective review of 35 Sudanese patients with confirmed cystic fibrosis. About 60% of cases presented before the age of 5 years and male to female ratio was 1.7:1.0. Consanguinity was reported in 25 of the families. The main presenting features were productive cough, wheeze and clubbing. The chest X-ray showed variable degrees of hyperinflation, collapse, cystic, fibrotic changes and bronchiectasis involving both upper and lower lobes with blurring of cardiac border and hilar vasculature in the majority of cases. The sweat chloride was between 70 and 140 mmol/l in 83% of the patients (positive > 60 mmol/l). Three patients underwent DNA study and confirmed to have cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations. Gene study was not available for the rest of the patients. To our knowledge this is the first report of confirmed cases of cystic fibrosis in Sudanese patients.

Key words: Children, Africa; Cystic fibrosis; Non-Caucasians; Sudan



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