Cystic fibrosis

Cystic fibrosis

1. clinical features

   • newborn
     • diagnosed through newborn screening
   • infancy
     • meconium ileus
       • newborn period
     • prolonged neonatal jaundice
     • failure to thrive
     • recurrent chest infections
     • malabsorption, steatorrhoea
   • young child
     • bronchiectasis
     • rectal prolapse
     • nasal polyp
     • sinusitis
   • older child and adolescent
     • allergic bronchopulmonary aspergillosis (ABPA)
     • diabetes mellitus
     • cirrhosis & portal hypertension
     • distal intestinal obstruction (DIOS, meconium ileus equivalent)
     • pneumothorax or recurrent haemoptysis
     • sterility in males

2. Diagnosis

   • sweat test
     • essential diag procedure
     • to sig elevation in [Cl-] in sweat
       • normal kids= 10-40 mmol/L
       • CF= 60-120 mmol/L
     • stimulate sweating
       • by pilocarpine iontophoresis
       • collect sweat
         • into special capillary tube
         • absorb it onto weighed filter paper
     • diag error common if not enough sweat collected
   • gene abnormalities in CFTR protein
     • detect to confirm diag
     • if child homozygote for 2 IDed mutations, then has CF

3. management

   • MDT approach
     • paediatricians
     • physiotherapists
     • dieticians
     • specialist nurses
     • primary care team
     • pt & fam, teachers
   • at least annual review at CF centre
   • aims of therapy
     • prevent progression of lung disease
     • maintain adequate nutrition & growth
   • Respiratory management