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Table 1 Signs and symptoms of CF (bolded – present in the reported patient)

From: Uncommon clinical presentation of cystic fibrosis in a patient homozygous for a rare CFTR mutation: a case report

 

Common respiratory

Common non-respiratory

Less common

age-independent

▪ productive cough

respiratory infection with typical CF pathogen

▪ salty-tasting skin

 

neonatal

 

▪ meconium ileus

▪ abdominal cramps

▪ fatty stools

protracted jaundice

▪ intestinal atresia

fat-soluble vitamin deficiency

infancy

chronic cough

▪ recurrent wheeze

recurrent lower respiratory tract infections

failure to thrive due to exocrine pancreatic insufficiency with steatorrhoea, diarrhea, and abdominal distension

▪ rectal prolapse

anaemia, oedema and hypoproteinemia

▪ pseudo-Bartter’s syndrome

▪ hypochloremic metabolic alkalosis

cholestasis