Cystic fibrosis on the African continent

No sweat, no genes: A diagnostic dilemma

“…While suspected clinically, the diagnosis was difficult to confirm due to the inability to obtain sweat chloride and the ethnicity of the patient who had none of the extended panel of CF genes identified. Traditionally, it was believed that CF only affects Caucasians . However, in recent years, there have been reports of CF from other ethnicities, including Africans .…”

“…We could not determine the causative mutation in our extended 38 gene panel, which is not surprising as mutations for CF are often population‐specific, and each country needs to determine the mutations present among its people and tailor the genetic diagnostic tools accordingly. Africa is lagging in this regard, with 78% of countries having no published record of any molecular investigation of CF …”

“…Traditionally, it was believed that CF only affects Caucasians. 1 However, in recent years, there have been reports of CF from other ethnicities, including Africans. 2 Anaemia, hypoproteinaemia and failure to thrive were the presenting features in this child.…”

CFTR Modulators: Shedding Light on Precision Medicine for Cystic Fibrosis

“…Nowaday, they live to see their forties ( Figure 5 ), and those born more recently are expected to make it to their fifties (Cohen-Cymberknoh et al, 2011; MacKenzie et al, 2014; Burgel et al, 2015). However, CF patients still present even more reduced life expectancy – between 20 and 30 years – in some regions of the world, including Brazil and the African continent (Marson et al, 2015; Stewart and Pepper, 2016). …”

Frecuencia de las mutaciones más comunes del gen CFTR en pacientes peruanos con fibrosis quística mediante la técnica ARMS-PCR

“…La identificación de las mutaciones presentes en los alelos del CFTR es de suma importancia para los pacientes, no solamente porque son confirmativas de la enfermedad sino también porque diferentes moléculas farmacéuticas han demostrado poder corregir completamente o atenuar los signos clínicos de la enfermedad, pero de forma específica a ciertas mutaciones (17,18) . Estos moduladores del CFTR incluyen potenciadores como el Ivacaftor VX-770 (nombre comercial: Kalydeco®) para pacientes con la mutación G551D, que incrementa el tráfico del cloruro por el canal del CFTR (mutaciones de clase III) (19) ; correctores como el Lumacaftor VX-809 para pacientes con mutación p.Phe508del en forma homocigota, que mejora el plegamiento y el tráfico de la proteína CFTR anormal (mutaciones clase II) y que actualmente es comercializado como Orkambi® (lumacaftor + ivacaftor) (20) ; y otras moléculas como el Ataluren, el cual está siendo evaluado en ensayos clínicos (nivel III), que corregiría las mutaciones que generan la aparición de un codón stop prematuro como la p.Arg1162* (mutaciones de clase I) (21,22) .…”