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Cystic fibrosis in Infant/Neonate
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Cystic fibrosis in Infant/Neonate

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Contributors: David Sullo MD, Ryan R. Walsh MD, Joshua J. Jarvis MD, Alastair Moore MD
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Synopsis

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 lungs and pancreas. Symptoms usually appear in childhood and include recurrent pulmonary infections with gradual loss of pulmonary function, and malabsorption leading to poor weight gain.

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, life expectancy is still only mid-30s on average. 

For more information, see OMIM.

Codes

ICD10CM:
E84.9 – Cystic fibrosis, unspecified

SNOMEDCT:
190905008  – Cystic Fibrosis

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Last Updated: 11/01/2018
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Cystic fibrosis in Infant/Neonate
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Cystic fibrosis : Cough, Failure to thrive, Dyspnea
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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