Document Detail

Central hypoventilation with PHOX2B expansion mutation presenting in adulthood.
MedLine Citation:
PMID:  17909190     Owner:  NLM     Status:  MEDLINE    
Congenital central hypoventilation syndrome most commonly presents in neonates with sleep related hypoventilation; late onset cases have occurred up to the age of 10 years. It is associated with mutations in the PHOX2B gene, encoding a transcription factor involved in autonomic nervous system development. The case history is described of an adult who presented with chronic respiratory failure due to PHOX2B mutation-associated central hypoventilation and an impaired response to hypercapnia.
S Barratt; A H Kendrick; F Buchanan; A T Whittle
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Thorax     Volume:  62     ISSN:  0040-6376     ISO Abbreviation:  Thorax     Publication Date:  2007 Oct 
Date Detail:
Created Date:  2007-10-02     Completed Date:  2007-12-07     Revised Date:  2013-06-06    
Medline Journal Info:
Nlm Unique ID:  0417353     Medline TA:  Thorax     Country:  England    
Other Details:
Languages:  eng     Pagination:  919-20     Citation Subset:  IM    
Department of Respiratory Medicine, Bristol Royal Infirmary, Bristol BS2 8HW, UK.
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MeSH Terms
Continuous Positive Airway Pressure
Homeodomain Proteins / genetics*
Hypercapnia / etiology,  therapy
Hypoventilation / genetics*,  therapy
Mutation / genetics*
Oxygen / blood,  therapeutic use
Transcription Factors / genetics*
Reg. No./Substance:
0/Homeodomain Proteins; 0/NBPhox protein; 0/Transcription Factors; 7782-44-7/Oxygen

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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