Early manifestations of cystic fibrosis in a premature patient with complex meconium ileus at birth

Cystic fibrosis and jejunoileal atresia: A clinical case

“…It is caused by pathogenic mutations in a gene on chromosome 7, specifically on the gene encoding the CF transmembrane conductance regulator, or CFTR , which functions as a chloride channel on the apical membrane of epithelial cells. 4 The mutation presents variations between ethnic and geographic groups and shows phenotypic heterogeneity. 2 , 3 , 4 , 5…”

“… 4 The mutation presents variations between ethnic and geographic groups and shows phenotypic heterogeneity. 2 , 3 , 4 , 5…”

“…4 The mutation presents variations between ethnic and geographic groups and shows phenotypic heterogeneity. [2][3][4][5] CF is responsible for chronic pulmonary disease as result of systematic obstruction and infection, as well as exocrine pancreatic insufficiency (diarrhea and malnutrition), loss of salt, and obstructive azoospermia syndrome. 4 According to the Cystic Fibrosis Foundation 2018 Registry Report, the average life expectancy is 47,4 years for those born in 2018.…”

“…[2][3][4][5] CF is responsible for chronic pulmonary disease as result of systematic obstruction and infection, as well as exocrine pancreatic insufficiency (diarrhea and malnutrition), loss of salt, and obstructive azoospermia syndrome. 4 According to the Cystic Fibrosis Foundation 2018 Registry Report, the average life expectancy is 47,4 years for those born in 2018. 6 CF also has a considerable impact in the public health systems; consequently, prevention from disease through carrier identification, genetic counseling, and prenatal diagnosis remains the most realistic approach to reduce its burden.…”

“…[1][2][3] It is caused by pathogenic mutations in a gene on chromosome 7, specifically on the gene encoding the CF transmembrane conductance regulator, or CFTR, which functions as a chloride channel on the apical membrane of epithelial cells. 4 The mutation presents variations between ethnic and geographic groups and shows phenotypic heterogeneity. [2][3][4][5] CF is responsible for chronic pulmonary disease as result of systematic obstruction and infection, as well as exocrine pancreatic insufficiency (diarrhea and malnutrition), loss of salt, and obstructive azoospermia syndrome.…”