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Cystic fibrosis (CF) is the most common, chronic, progressive, life-limiting inherited disease in the UK. The prevalence is around 1 in 2500 live births.1 The care given to children and young people (CYP) with CF spans a lifetime including newborn screening, diagnosis, preventative treatment for lung disease, detection and management of complications, nutrition and psychological support.2 Advances in the management of CF have led to significant improvements in life expectancy and quality of life. Introduction of mutation-specific CF therapies have led to true personalised medicine.
Information about current guidance
The National Institute for Health and Care Excellence (NICE) guidance on ‘Cystic Fibrosis: Diagnosis and management’ (NG 78)3 was published in October 2017. We aim to summarise the key recommendations for general paediatricians to use in their day-to-day practice. Other recent guidance includes: the European Cystic Fibrosis Society’s ‘Standards of care: best practice guidelines’ (2018)2; management of pulmonary exacerbations by the Cystic Fibrosis Foundation (2009)4; and the UK Cystic Fibrosis Trust’s consensus documents.
What does this guideline recommend?
Diagnosis of CF
Diagnosis can be based on:
Identification on the infant screening programme.
Positive results for sweat or genetic testing in asymptomatic patients.
Clinical manifestations confirmed with a positive sweat or genetic test.
Clinical manifestations in symptomatic patients with normal sweat or genetic test (rare).
A well-performed, well-interpreted sweat test is the gold standard for diagnosing CF.5
Assessment for CF
A sweat test should be performed in all CYP with clinical indications (box 1) to confirm CF.
Indications to consider screening for cystic fibrosis
Congenital intestinal atresia
Chronic and recurrent pulmonary disease
Chronic sinus disease
Symptoms and signs that suggest distal intestinal obstruction syndrome
Faltering growth and undernutrition
Acute or chronic pancreatitis
Children with either positive or equivocal test results need referral to a specialist CF centre. Children with clinical manifestations of CF need referral …
Contributors All authors contributed equally to the article.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent for publication Not required.
Provenance and peer review Commissioned; externally peer reviewed.