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Diagnosis and process of care 

Diagnosis and process of care
Chapter:
Diagnosis and process of care
Author(s):

Steve Cunningham

DOI:
10.1093/med/9780199582709.003.0002
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date: 18 December 2017

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.

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