Cystic fibrosis: keeping it in the family.
Nearly all men with cystic fibrosis (CF) are infertile, although assisted conception has allowed an increasing number of women with CF to become pregnant. We report on the case of a couple investigated for infertility who conceived a child with CF. The father had previously undergone a laparotomy for meconium peritonitis as a neonate, and the mother had recently been given a diagnosis of asthma. Both parents fulfilled the United States Cystic Fibrosis Foundation diagnostic criteria for cystic fibrosis. We discuss the mild CF phenotype and the impact of the diagnosis on this family.
Crowley
Suzanne
S
Department of Paediatrics, Royal Brompton and Harefield Hospitals Trust, London, UK. Suzanne.Crowley@stgeorges.nhs.uk
Bush
Andrew
A
D000328:Adult; D002712:Chlorides / Q000032:analysis; D003550:Cystic Fibrosis / Q000145:classification / Q000175:diagnosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D005260:Female; D005298:Fertility; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D010446:Peptide Fragments / Q000235:genetics*; D010641:Phenotype; D011247:Pregnancy; D013542:Sweat / Q000737:chemistry
C505032:CFTR protein, human; D002712:Chlorides; D010446:Peptide Fragments; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; C074197:cystic fibrosis transmembrane conductance regulator (505-511)