Literature DB >> 21686548

Central hypoventilation with PHOX2B expansion mutation presenting in adulthood.

Shaney Barratt1, Adrian Kendrick, Fiona Buchanan, Adam Whittle.   

Abstract

The case history is described of a 41 year old male who presented with acute-on-chronic respiratory failure due to PHOX2B mutation-associated central hypoventilation with a quantified impaired response to hypercapnia. He was successfully treated with non-invasive ventilation, which has been continued nocturnally at home.

Entities:  

Year:  2009        PMID： 21686548      PMCID： PMC3029870          DOI： 10.1136/bcr.09.2008.0946

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN： 1757-790X


  13 in total

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Journal:  Am J Respir Crit Care Med       Date:  1999-07       Impact factor: 21.405

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Authors:  E S Katz; S McGrath; C L Marcus
Journal:  Pediatr Pulmonol       Date:  2000-01

5.  PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.

Authors:  Delphine Trochet; Louise M O'Brien; David Gozal; Ha Trang; Agneta Nordenskjöld; Béatrice Laudier; Pär-Johan Svensson; Sabine Uhrig; Trevor Cole; Stephan Niemann; Arnold Munnich; Claude Gaultier; Stanislas Lyonnet; Jeanne Amiel
Journal:  Am J Hum Genet       Date:  2005-01-18       Impact factor: 11.025

6.  Abnormal esophageal motility in children with congenital central hypoventilation syndrome.

Authors:  Christophe Faure; Fabienne Viarme; Guillaume Cargill; Jean Navarro; Claude Gaultier; Ha Trang
Journal:  Gastroenterology       Date:  2002-05       Impact factor: 22.682

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Journal:  Australas Ann Med       Date:  1967-02

8.  Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.

Authors:  Jeanne Amiel; Béatrice Laudier; Tania Attié-Bitach; Ha Trang; Loïc de Pontual; Blanca Gener; Delphine Trochet; Heather Etchevers; Pierre Ray; Michel Simonneau; Michel Vekemans; Arnold Munnich; Claude Gaultier; Stanislas Lyonnet
Journal:  Nat Genet       Date:  2003-03-17       Impact factor: 38.330

9.  Phox2b controls the development of peripheral chemoreceptors and afferent visceral pathways.

Authors:  Stéphane Dauger; Alexandre Pattyn; Frédéric Lofaso; Claude Gaultier; Christo Goridis; Jorge Gallego; Jean-François Brunet
Journal:  Development       Date:  2003-11-19       Impact factor: 6.868

10.  PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome.

Authors:  I Matera; T Bachetti; F Puppo; M Di Duca; F Morandi; G M Casiraghi; M R Cilio; R Hennekam; R Hofstra; J G Schöber; R Ravazzolo; G Ottonello; I Ceccherini
Journal:  J Med Genet       Date:  2004-05       Impact factor: 6.318
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