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Congenital Central Hypoventilation Syndrome : ウィキペディア英語版
Ondine's curse

Ondine's curse is most commonly used to refer to congenital central hypoventilation syndrome (CCHS) or primary alveolar hypoventilation. CCHS is a respiratory disorder that is fatal if untreated. People afflicted with Ondine's curse classically suffer from respiratory arrest during sleep.
CCHS is a very rare and serious form of central nervous system failure, involving a failure of autonomic control of breathing. In 2006, there were only about 200 known cases worldwide. As of 2008, only 1000 total cases were known. The diagnosis may be delayed because of variations in the severity of the manifestations or lack of awareness in the medical community, particularly in milder cases. However, as there have been cases where asymptomatic family members found to also have CCHS it may be these figures only reflect those found to require mechanical ventilation. In all cases, episodes of apnea occur in sleep, but in a few patients, at the most severe end of the spectrum, apnea also occurs while awake.
Although rare, cases of long-term untreated CCHS have been reported and are termed late onset CCHS (LO-CCHS). Cases that go undiagnosed until later life and middle age, although the symptoms are usually obvious in retrospect. There have, however, even been cases of LO-CCHS where family members found to have it have been asymptomatic. Again, lack of awareness in the medical community may cause such a delay.
CCHS susceptibility is not known to be affected by gender.〔
CCHS is congenital. By contrast, Acquired Central Hypoventilation Syndrome (ACHS) or alveolar hypoventilation secondary to neurologic disease, can develop as a result of severe injury or trauma to the brain or brainstem. Where the cause of an Acquired Central Hypoventilation Syndrome is unclear or unknown it is called idiopathic acquired central hypoventilation syndrome.
==Signs and symptoms==
Ondine's curse is associated with respiratory arrests during sleep and, in some cases, to neuroblastoma (tumors of the sympathetic ganglia), Hirschsprung disease (partial agenesis of the enteric nervous system),〔 dysphagia (difficulty swallowing) and anomalies of the pupilla. Other symptoms include darkening of skin color from inadequate amounts of oxygen, drowsiness, fatigue, headaches, and an inability to sleep at night. Those suffering from Ondine's curse also have a sensitivity to sedatives and narcotics, which makes respiration even more difficult. A low concentration of oxygen in the red blood cells also may cause hypoxia-induced pulmonary vasoconstriction and pulmonary hypertension, culminating in cor pulmonale or a failure of the right side of the heart. Associated complications may also include gastro-esophageal reflux, ophthalmologic issues, seizures, recurrent pneumonia, developmental delays, learning disabilities and episodes of fainting and temperature dysregulation

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
ウィキペディアで「Ondine's curse」の詳細全文を読む



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