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Guidelines for diagnosis and management of congenital central hypoventilation syndrome.
Orphanet J Rare Dis. 2020 09 21; 15(1):252.OJ

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.

Links

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Authors+Show Affiliations

Trang H
Hôpital Universitaire Robert Debré, Centre de référence des maladies respiratoires rares, and Université de Paris, Paris, France. ha.trang@aphp.fr.
Samuels M
Staffordshire Children's Hospital, Stoke-on-Trent, Staffs and Great Ormond Street Hospital, London, UK.
Ceccherini I
Istituto Giannina Gaslini, UOSD Laboratory of Genetics and Genomics of Rare Diseases, Genoa, Italy.
Frerick M
Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany.
Garcia-Teresa MA
Niño Jesús University Children's Hospital, Pediatric Intensive Care Unit, Madrid, Spain.
Peters J
Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany.
Schoeber J
Department of Pediatrics, Klinikum Dritter Orden, Munich, Germany.
Migdal M
Department of Anaesthesiology and Intensive care, Children's Memorial Health Institute, Warsaw, Poland.
Markstrom A
Karolinska University Hospital, Stockholm, Sweden.
Ottonello G
Pediatric Primary Care, ASL3, Genoa, Liguria, Italy.
Piumelli R
Sleep Disordered Breathing and SIDS Center, Meyer Children's Hospital, Florence, Italy.
Estevao MH
Pneumology Department, Pediatric Hospital of Coimbra, Coimbra, Portugal.
Senecic-Cala I
University Hospital Centre, Department of Pediatrics, Zagreb and School of Medicine, Zagreb, Croatia.
Gnidovec-Strazisar B
University Children's Hospital, Department of child, adolescent & developmental neurology, University Clinical Centre Ljubljana, Ljubljana, Slovenia.
Pfleger A
Medical University of Graz, Paediatric Pulmonology and Allergology, Graz, Austria.
Porto-Abal R
Department of Pediatrics, Puerta de Hierro Hospital, Madrid, Spain.
Katz-Salamon M
Karolinska University Hospital, Stockholm, Sweden.

MeSH

AdultChildHomeodomain ProteinsHumansHypoventilationMutationSleep Apnea, CentralTranscription Factors

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

32958024

Citation

Trang, Ha, et al. "Guidelines for Diagnosis and Management of Congenital Central Hypoventilation Syndrome." Orphanet Journal of Rare Diseases, vol. 15, no. 1, 2020, p. 252.
Trang H, Samuels M, Ceccherini I, et al. Guidelines for diagnosis and management of congenital central hypoventilation syndrome. Orphanet J Rare Dis. 2020;15(1):252.
Trang, H., Samuels, M., Ceccherini, I., Frerick, M., Garcia-Teresa, M. A., Peters, J., Schoeber, J., Migdal, M., Markstrom, A., Ottonello, G., Piumelli, R., Estevao, M. H., Senecic-Cala, I., Gnidovec-Strazisar, B., Pfleger, A., Porto-Abal, R., & Katz-Salamon, M. (2020). Guidelines for diagnosis and management of congenital central hypoventilation syndrome. Orphanet Journal of Rare Diseases, 15(1), 252. https://doi.org/10.1186/s13023-020-01460-2
Trang H, et al. Guidelines for Diagnosis and Management of Congenital Central Hypoventilation Syndrome. Orphanet J Rare Dis. 2020 09 21;15(1):252. PubMed PMID: 32958024.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Guidelines for diagnosis and management of congenital central hypoventilation syndrome. AU - Trang,Ha, AU - Samuels,Martin, AU - Ceccherini,Isabella, AU - Frerick,Matthias, AU - Garcia-Teresa,Maria Angeles, AU - Peters,Jochen, AU - Schoeber,Johannes, AU - Migdal,Marek, AU - Markstrom,Agneta, AU - Ottonello,Giancarlo, AU - Piumelli,Raffaele, AU - Estevao,Maria Helena, AU - Senecic-Cala,Irena, AU - Gnidovec-Strazisar,Barbara, AU - Pfleger,Andreas, AU - Porto-Abal,Raquel, AU - Katz-Salamon,Miriam, Y1 - 2020/09/21/ PY - 2020/03/27/received PY - 2020/07/03/accepted PY - 2020/9/22/entrez PY - 2020/9/23/pubmed PY - 2021/5/19/medline KW - Central hypoventilation KW - Dysautonomia KW - Hirschsprung disease KW - Long-term ventilation KW - Neural crest tumour KW - PHOX2B SP - 252 EP - 252 JF - Orphanet journal of rare diseases JO - Orphanet J Rare Dis VL - 15 IS - 1 N2 - 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. SN - 1750-1172 UR - https://www.unboundmedicine.com/medline/citation/32958024/Guidelines_for_diagnosis_and_management_of_congenital_central_hypoventilation_syndrome_ DB - PRIME DP - Unbound Medicine ER -