growth compared to his brother and sister at the same age, and a chronic cough, is taken by his mother to the see the family GP. The child was born at 41 weeks of gestational age. Soon after birth, he developed respiratory distress and was admitted to the neonatal intensive care unit where he was mechanically ventilated for 1 day and discharged after 5 days. He was initially breast-fed, but due to frequent vomiting and loose bowel movements, he was changed to formula feeding. Despite trials of different types of formulas (soy, hypoallergenic, etc.), his clinical course was remarkable for bloating
An 8 month-old child with relatively poor growth compared to his brother and sister at the
same age, and a chronic cough, is taken by his mother to the see the family GP. The child was
born at 41 weeks of gestational age. Soon after birth, he developed respiratory distress and
was admitted to the neonatal intensive care unit where he was mechanically ventilated for 1
day and discharged after 5 days. He was initially breast-fed, but due to frequent vomiting and
loose bowel movements, he was changed to formula feeding. Despite trials of different types
of formulas (soy, hypoallergenic, etc.), his clinical course was remarkable for bloating,
diarrhoea and failure to thrive. He developed a daily cough and some respiratory difficulty. At
the age of 5 months he was hospitalized for respiratory distress, and after coughing induced
by respiratory physiotherapy, and throat culture showed growth of Staphylococcus aureus. He
continued to have loose, greasy, foul-smelling stools and failed to gain weight. The GP
referred him to the paediatric department at the local General Hospital, where an
iontophoresis of pilocarpine sweat test showed sweat chloride 105 mmol/L, and CFTR
mutation analysis (genetic testing) results were positive for two copies of Delta F508. His
mother wants to know the diagnosis, what the treatment options are and what the prognosis is
for her baby.
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