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

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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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