Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0020440 (hypercapnia)
 7,939 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Central congenital hypoventilation syndrome (CCHS) is a disorder in which affected individuals fail to breathe during sleep despite progressive hypercapnia and hypoxia. Discovery of the genetic link between PHOX2B gene mutations and CCHS represents a breakthrough in the diagnosis of CCHS, identification of patients with late-onset central hyperventilation syndrome (LO-CHS), association of mutated alleles with disease severity, and clues to the pathophysiology responsible for the disorder. CCHS is a neurocristopathy, and affected individuals are more likely to have disorders of the autonomic nervous system, Hirschsprung disease, and neural crest tumors. Most CCHS patients harbor sporadic mutations, but identification of an affected individual should trigger evaluation of family members because inherited mutations are transmitted in an autosomal dominant fashion. Management of CCHS and LO-CHS is primarily directed at optimizing respiratory status, most often with nighttime mechanical ventilatory support and monitoring with polysomnography. Multidisciplinary care is also necessary to promote better outcomes and long-term survival.
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PMID:Central congenital hypoventilation syndrome: changing face of a less mysterious but more complex genetic disorder. 1945 85

Congenital central hypoventilation syndrome (CCHS) is a rare disorder with uncertain nosology that usually presents early in life. The syndrome is characterized by ventilatory response impairment to carbon dioxide and may result in respiratory failure at birth. Recent reports have identified a similar clinical presentation beyond infancy called late-onset central hypoventilation syndrome (LO-CHS) as a disease continuum of CCHS with similar and overlapping pathophysiology. However, some have proposed that the syndrome accompanied by hypothalamic dysfunction (HD) be classified as a distinct clinical entity, LO-CHS/HD. To the best of our knowledge, the case reported herein is the oldest case of LO-CHS/HD in childhood, at 13 years old. He suffered from recurrent pulmonary edema, acute convulsive seizures, hypersomnia, hyperphagia, obesity, impaired glucose tolerance test, and hypercapnia, diagnosed as LO-CHS/HD, and was successfully treated with nasal bi-level positive airway pressure.
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PMID:A case of late-onset central hypoventilation syndrome with hypothalamic dysfunction: through a new phenotype. 2056 Feb 60