Later Onset Congenital Central Hypoventilation Syndrome.
Adolescent
Later onset congenital central hypoventilation syndrome
PHOX2B
Journal
The Medical clinics of North America
ISSN: 1557-9859
Titre abrégé: Med Clin North Am
Pays: United States
ID NLM: 2985236R
Informations de publication
Date de publication:
Jan 2024
Jan 2024
Historique:
medline:
13
11
2023
pubmed:
12
11
2023
entrez:
11
11
2023
Statut:
ppublish
Résumé
Congenital central hypoventilation syndrome (CCHS) is a rare disorder of the autonomic nervous system involving multiple organ systems, with the hallmark symptom of respiratory failure due to aberrant central control of breathing resulting in hypoxemia and hypercapnia. Later onset CCHS (LOCCHS) is defined as the diagnosis of CCHS in children older than 1 month. Molecular genetic testing for PHOX2B variants has led not only to increased diagnosis of neonates with CCHS but also the increased identification of older children, adolescents, and adults with LOCCHS who may have a milder clinical presentation of this multisystem disease.
Identifiants
pubmed: 37951652
pii: S0025-7125(23)00081-0
doi: 10.1016/j.mcna.2023.05.021
pii:
doi:
Substances chimiques
Homeodomain Proteins
0
Transcription Factors
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
215-226Informations de copyright
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