Biomaterial Database

Guidelines for diagnosis and management of congenital central hypoventilation syndrome. 2020

Ha Trang, and Martin Samuels, and Isabella Ceccherini, and Matthias Frerick, and Maria Angeles Garcia-Teresa, and Jochen Peters, and Johannes Schoeber, and Marek Migdal, and Agneta Markstrom, and Giancarlo Ottonello, and Raffaele Piumelli, and Maria Helena Estevao, and Irena Senecic-Cala, and Barbara Gnidovec-Strazisar, and Andreas Pfleger, and Raquel Porto-Abal, and Miriam Katz-Salamon

Hôpital Universitaire Robert Debré, Centre de référence des maladies respiratoires rares, and Université de Paris, Paris, France. ha.trang@aphp.fr.

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.

UI	MeSH Term	Description	Entries
D007040	Hypoventilation	A reduction in the amount of air entering the pulmonary alveoli.	Hypoventilations
D009154	Mutation	Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.	Mutations
D002648	Child	A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL.	Children
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000328	Adult	A person having attained full growth or maturity. Adults are of 19 through 44 years of age. For a person between 19 and 24 years of age, YOUNG ADULT is available.	Adults
D014157	Transcription Factors	Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.	Transcription Factor,Factor, Transcription,Factors, Transcription
D018398	Homeodomain Proteins	Proteins encoded by homeobox genes (GENES, HOMEOBOX) that exhibit structural similarity to certain prokaryotic and eukaryotic DNA-binding proteins. Homeodomain proteins are involved in the control of gene expression during morphogenesis and development (GENE EXPRESSION REGULATION, DEVELOPMENTAL).	Homeo Domain Protein,Homeobox Protein,Homeobox Proteins,Homeodomain Protein,Homeoprotein,Homeoproteins,Homeotic Protein,Homeo Domain Proteins,Homeotic Proteins,Domain Protein, Homeo,Protein, Homeo Domain,Protein, Homeobox,Protein, Homeodomain,Protein, Homeotic,Proteins, Homeo Domain,Proteins, Homeobox,Proteins, Homeodomain,Proteins, Homeotic
D020182	Sleep Apnea, Central	A condition associated with multiple episodes of sleep apnea which are distinguished from obstructive sleep apnea (SLEEP APNEA, OBSTRUCTIVE) by the complete cessation of efforts to breathe. This disorder is associated with dysfunction of central nervous system centers that regulate respiration.	Apnea, Sleep, Central,Central Sleep Apnea,Hypoventilation, Central Alveolar,Ondine Syndrome,Sleep-Disordered Breathing, Central,Apnea, Central,Apnea, Central Sleep,Central Alveolar Hypoventilation Syndrome,Central Sleep Apnea Syndrome,Central Sleep Apnea, Primary,Central Sleep Apnea, Secondary,Central Sleep Disordered Breathing,Newborn Primary Sleep Apneas,Primary Central Sleep Apnea,Primary Sleep Apneas of Newborn,Secondary Central Sleep Apnea,Sleep Apnea, Lethal Central,Sleep Apnea, Newborn, Primary,Alveolar Hypoventilation, Central,Alveolar Hypoventilations, Central,Apneas, Central,Apneas, Central Sleep,Breathing, Central Sleep-Disordered,Breathings, Central Sleep-Disordered,Central Alveolar Hypoventilation,Central Apnea,Central Apneas,Central Sleep Apneas,Central Sleep-Disordered Breathing,Central Sleep-Disordered Breathings,Hypoventilations, Central Alveolar,Sleep Apneas, Central,Sleep Disordered Breathing, Central,Sleep-Disordered Breathings, Central