Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Trang, H; Samuels, M; Ceccherini, I; Frerick, M; Garcia-Teresa, MA; Peters, J; Schoeber, J; Migdal, M; Markstrom, A; Ottonello, G; Piumelli, R; Estevao, MH; Senecic-Cala, I; Gnidovec-Strazisar, B; Pfleger, A; Porto-Abal, R; Katz-Salamon, M.
Guidelines for diagnosis and management of congenital central hypoventilation syndrome.
Orphanet J Rare Dis. 2020; 15(1):252-252
Doi: 10.1186/s13023-020-01460-2
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- Co-Autor*innen der Med Uni Graz
- Pfleger Andreas
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- Abstract:
- Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS. In recent years, the condition has evolved from a life-threatening neonatal onset disorder to include broader and milder clinical presentations, affecting children, adults and families. Genes other than PHOX2B have been found responsible for CCHS in rare cases and there are as yet other unknown genes that may account for the disease. At present, management relies on lifelong ventilatory support and close follow up of dysautonomic progression. BODY: This paper provides a state-of-the-art comprehensive description of CCHS and of the components of diagnostic evaluation and multi-disciplinary management, as well as considerations for future research. Awareness and knowledge of the diagnosis and management of this rare disease should be brought to a large health community including adult physicians and health carers.
- Find related publications in this database (Keywords)
- Central hypoventilation
- Dysautonomia
- Hirschsprung disease
- Neural crest tumour
- Long-term ventilation
- PHOX2B