Cystic fibrosis

Cystic fibrosis ( CF ) is an autosomal recessive , monogenetic disorder caused by mutations in the cystic fibrosis transmembrane conductance regulator gene ( CFTR ) Nature reviews 2015

most common lethal inherited disease in the white population monogenic , autosomal recessive due to absence of CFTR it is thought to affect about 1 in 2500 live births usually diagnosed in the first few months of life ○ universal newborn bloodspot screening ( NBS ) in the UK since 2007 This involves taking blood from the newborns heel on day 5 to check for 6 inherited metabolic conditions ○ NBS was started in the US since 2004 ○ milder phenotypes may be diagnosed in later life This means that people born before the screening programs were introduced may have the condition but have not been diagnosed. It has been reported that 935 adults in 2016 with CF had been diagnosed at age 16 or after new data has shown that the incidence may be lower than previously thought ie between 1/3000 and 1 / 6000 it is estimated that 1 in 25-30 Caucasians are carriers of a pathogenic mutation of the CFTR gene median age at diagnosis is 2 months...