Submitted Phenotype Details
The patient is a seven month old Argentinean girl with no family history of CF. She presented ileus meconial at birth. The neonatal screening was positive (IRT=220 ng/ml; positive value>70 ng/ml) and the sweat test was positive at the first month of life (chloride, right arm 110 meq/l and left arm 108 meq/l). She presents early pulmonary symptoms and pancreatic insufficiency based on clinical criteria.