Orphanet Journal of Rare Diseases | |
Guidelines for diagnosis and management of congenital central hypoventilation syndrome | |
Marek Migdal1  Matthias Frerick2  Johannes Schoeber2  Jochen Peters2  Raquel Porto-Abal3  Ha Trang4  Isabella Ceccherini5  Miriam Katz-Salamon6  Agneta Markstrom6  Andreas Pfleger7  Maria Angeles Garcia-Teresa8  Giancarlo Ottonello9  Maria Helena Estevao1,10  Raffaele Piumelli1,11  Martin Samuels1,12  Barbara Gnidovec-Strazisar1,13  Irena Senecic-Cala1,14  | |
[1] Department of Anaesthesiology and Intensive care, Children’s Memorial Health Institute, Warsaw, Poland;Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany;Department of Pediatrics, Puerta de Hierro Hospital, Madrid, Spain;Hôpital Universitaire Robert Debré, Centre de référence des maladies respiratoires rares, and Université de Paris, Paris, France;Istituto Giannina Gaslini, UOSD Laboratory of Genetics and Genomics of Rare Diseases, Genoa, Italy;Karolinska University Hospital, Stockholm, Sweden;Medical University of Graz, Paediatric Pulmonology and Allergology, Graz, Austria;Niño Jesús University Children’s Hospital, Pediatric Intensive Care Unit, Madrid, Spain;Pediatric Primary Care, ASL3, Genoa, Liguria, Italy;Pneumology Department, Pediatric Hospital of Coimbra, Coimbra, Portugal;Sleep Disordered Breathing and SIDS Center, Meyer Children’s Hospital, Florence, Italy;Staffordshire Children’s Hospital, Stoke-on-Trent, Staffs and Great Ormond Street Hospital, London, UK;University Children’s Hospital, Department of child, adolescent & developmental neurology, University Clinical Centre Ljubljana, Ljubljana, Slovenia;University Hospital Centre, Department of Pediatrics, Zagreb and School of Medicine, Zagreb, Croatia; | |
关键词: Central hypoventilation; Dysautonomia; Hirschsprung disease; Neural crest tumour; Long-term ventilation; PHOX2B; | |
DOI : 10.1186/s13023-020-01460-2 | |
来源: Springer | |
【 摘 要 】
BackgroundCongenital 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.BodyThis 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.ConclusionAwareness 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.
【 授权许可】
CC BY
【 预 览 】
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