| Congenital central hypoventilation syndrome in children. | |
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MedLine Citation:
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PMID: 22018041 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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Congenital central hypoventilation syndrome (CCHS) is a rare, lifelong condition wherein control of breathing is abnormal and patients present with symptoms of alveolar hypoventilation. The severity of hypoventilation varies and although most patients present in the neonatal period, late onset cases have been reported. In 2003, it was discovered that mutations in the PHOX2B gene were responsible for CCHS. This gene also plays a role in neural crest cell migration, and many patients present with symptoms of autonomic dysfunction in addition to hypoventilation. The pathophysiology responsible for hypoventilation remains unclear although a unifying hypothesis is that the abnormality is located in areas of the brain involved in integration of chemoreceptor afferent pathways for ventilation. The goal of treatment for CCHS is to ensure adequate ventilation during wakefulness and sleep. A variety of ventilation modalities are available including positive pressure ventilation via tracheostomy, non-invasive ventilation via nasal mask, and diaphragmatic pacing. With close monitoring and support, children with CCHS can be expected to function well in society and have a good quality of life. |
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Authors:
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F Healy; C L Marcus |
Publication Detail:
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Type: Journal Article Date: 2011-04-16 |
Journal Detail:
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Title: Paediatric respiratory reviews Volume: 12 ISSN: 1526-0550 ISO Abbreviation: Paediatr Respir Rev Publication Date: 2011 Dec |
Date Detail:
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Created Date: 2011-10-24 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 100898941 Medline TA: Paediatr Respir Rev Country: England |
Other Details:
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Languages: eng Pagination: 253-63 Citation Subset: IM |
Copyright Information:
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Copyright © 2011. Published by Elsevier Ltd. |
Affiliation:
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Division of Pulmonary Medicine, The Children's Hospital of Philadelphia. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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