Cystic fibrosis in black patients: Western Cape experiences

Abstract

Cystic fibrosis (CF) in non-American black Africans has only been described in case reports. CF was first reported in a South African black child with meconium ileus in 1959.1 Ten years later Levin and colleagues2 described twins born to a Sotho mother and a Zulu father. One twin had meconium ileus, the other had pancreatic insufficiency. Not long after the identification of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 1989, molecular genetics proved that CF in Africa was a CFTR mutation-based disease. A study of 3 CF cases in black South Africans included clinical data and the results of a systematic investigation of the CFTR gene in each case.3 Four genes had the 3120+1G A mutation that is significantly prevalent in African Americans. Another carried a different mutation (G1249E) and the last carried a previously unidentified 54 base pair deletion in exon 17a.