Table 1.
Clinical summary of patient carrying one S1045Y CFTR mutation
Paramaters | Patient's Profile |
---|---|
Pancreatic insufficiency at birth | Present |
Sweat chloride | Intermediate (right arm 43 mmol/l, left arm 52 mmol/l) |
Weight gain | 3rd-10th percentile for weight, with an average weight gain of 5 g/day |
Pulmonary symptoms | Continuous rhinorrhea and worsening cough at night at 9 mo of age |
Respiratory flora | Klebsiella pneumoniae, Enterobacter cloacae, and Chryseobacterium meningosepticum |
CFTR mutation | p.Ser926X and p.Ser1045Tyr Mother is a p.Ser1045Tyr carrier |
CFTR, cystic fibrosis transmembrane conductance regulator.