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Cystic fibrosis in Adult
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Cystic fibrosis in Adult

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Contributors: Joon B. Kim BS, David Sullo MD, Ryan R. Walsh MD, Joshua J. Jarvis MD, Alastair Moore MD, Michael W. Winter MD
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Synopsis

Cystic fibrosis is a congenital metabolic disorder caused by a mutation in a protein that regulates chloride ion transport. This leads to viscous secretions and eventual dysfunction of exocrine glands, most notably affecting the lungs and pancreas. Symptoms usually appear in childhood and include recurrent pulmonary infections with gradual loss of pulmonary function and pancreatic insufficiency leading to poor weight gain. Patients with cystic fibrosis often have impaired absorption in the small bowel and ciliary dysfunction in the genitourinary system that can impact fertility.

Cystic fibrosis is an autosomal recessive disorder with a high prevalence in Ashkenazi Jewish populations. In these high-risk populations, routine genetic testing is often pursued.

Early trials of combining 2 genetic therapies have shown promising results in their potential to treat the underlying genetic cause of disease in the majority of patients with cystic fibrosis. Despite significant improvements in therapy in the past few decades primarily pertaining to pulmonary function and nutrition, life expectancy is still only in the mid-30s on average, although this has increased over the past several decades.

For more information, see OMIM.

Codes

ICD10CM:
E84.9 – Cystic fibrosis, unspecified

SNOMEDCT:
190905008  – Cystic Fibrosis

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Last Reviewed: 02/01/2019
Last Updated: 02/01/2019
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Cystic fibrosis in Adult
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Cystic fibrosis (Classic CF) : Cough, Failure to thrive, Dyspnea, Wheezing
Imaging Studies image of Cystic fibrosis
Non-contrast CT image of the chest viewed in lung windows in the middle lungs. There is bilateral upper and mid lung zone cylindrical bronchiectasis with relative sparing of the basal segments (straight black arrows). Multiple regions of mucous plugging are evident and associated with airway wall thickening (straight white arrow). Consolidation within the middle lobe and lingual are the result of atelectasis, secondary to mucous plugging. Tree-in-bud opacities throughout reflect small airways dilation and inspissation of mucous (curved white arrows). Bilateral hilar adenopathy is present (red straight arrow).
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