![]() CCHS is currently classified as a “sleep-related alveolar hypoventilation” and “presence of mutations of PHOX2B gene” by the International Classification of Sleep Disorders version 3 published in 2014. PHOX2B was identified as the major CCHS-causing gene for patients in 2003. Clinical hallmarks of CCHS are well-described: central hypoventilation due to abnormally reduced or absent ventilatory responses to hypercapnia and hypoxia and associated manifestations of autonomic dysfunction such as Hirschsprung disease (HD) and neural crest tumours. CCHS (2020-ICD-10-CM and ICSD3 code: G47.80, ORPHA 661) is a rare condition, the incidence of which has been estimated to be at 1/148,000–1/200,000 live births, and the prevalence at 1/500,000 individuals. The name of Congenital Central Hypoventilation Syndrome (CCHS) was given to the disease in 1978 by authors who used phrenic nerve stimulation as a treatment option. It was defined as “alveolar hypoventilation due to an abnormality in the automatic control of ventilation by the central nervous system”, not explained by any pulmonary, cardiovascular, neurologic or muscular anomalies. “Primary alveolar hypoventilation”, also referred to as “Ondine’s curse”, was first reported in a newborn in 1970. ConclusionĪwareness 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. 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. At present, management relies on lifelong ventilatory support and close follow up of dysautonomic progression. 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. 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. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS. 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.
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |