Chapter

Diagnosis and process of care

Steve Cunningham

in Cystic Fibrosis

Published on behalf of Oxford University Press

ISBN: 9780199582709
Published online September 2011 | e-ISBN: 9780199607563 | DOI: http://dx.doi.org/10.1093/med/9780199582709.003.0002

Series: Oxford Respiratory Medicine Library

Diagnosis and process of care

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• 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.

Chapter.  4098 words.  Illustrated.

Subjects: Respiratory Medicine and Pulmonology

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