Author/Editor		Trang, Ha; Samuels, Martin Philip; Ceccherini, Isabella; Frerick, Matthias; Garcia-Teresa, Maria Angeles; Peters, Jochen; Schoeber, Johannes; Migdal, Marek; Markstrom, Agneta; Gnidovec Stražišar, Barbara
Title		Guidelines for diagnosis and management of congenital central hypoventilation syndrome
Type		članek
Vol. and No.		Letnik 15 , št. Art. no. 252
Publication year		2020
Volume		str. [21 str.]
ISSN		1750-1172 - Orphanet journal of rare diseases
Language		eng
Abstract		Background. 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. Conclusion. 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.
Descriptors		Sleep apnea, central Congenital abnormalities Centralna spalna apneja Kongenitalne anomalije