Diagnosis and process of care, in Cystic Fibrosis (Oxford Respiratory Medicine Library) (2010).

Cunningham S

Oxford University Press

• Diagnosis is most common in those with recurrent respiratory infection and poor weight gain in the first year of life
• Those not diagnosed as newborns may present later in life with more subtle, but troublesome, respiratory infection
• CF is a clinical diagnosis, supported by an abnormal sweat chloride level on sweat testing
• Genetic analysis may help confirm a diagnosis of CF, but the very large number of mutations now identified make some genotype/phenotype relationships difficult to predict
• Newborn screening programmes generally test for raised immune reactive trypsin (IRT) on blood taken within the first week of life, with a subsequent test for CF gene mutations if IRT is elevated
• Patients with CF require regular review by health professionals trained in CF care
• Patients with CF may inadvertently share respiratory organisms and consideration should be given as how to minimize this risk during hospital contact
• Annual review is an important event in the care of patients with CF, enabling a multidisciplinary perspective on the rate of disease progression and plans made to slow this decline
• Transition to adult services should begin in early teens, actively involve patients and parents, and provide plenty of opportunity for transfer of information across teams