[Familial primary chronic type ventilation].
Primary hypoventilation (Ondine's curse), due to diminished sensitivity ofthe respiratory center to CO2, is very rare. Up to now only a few patients have been observed, ten of whom were children. Familial occurrence was reported in 1976 for the first time. The cases are described of a 10-year-old girl and her mother who both showed the typical clinical and pathophysiological symptoms. Our own observation also suggests that this unknown defect of respiratory regulation could be inherited. Sedation, anesthesia, or severe respiratory tract infection are life-threatening situations in these patients. Pulmonary hypertension and right heart failure are possible long-term complications.
D000328:Adult; D002245:Carbon Dioxide / Q000097:blood; D002628:Chemoreceptor Cells; D002648:Child; D002908:Chronic Disease; D005260:Female; D006333:Heart Failure / Q000209:etiology; D006801:Humans; D006976:Hypertension, Pulmonary / Q000209:etiology; D007040:Hypoventilation / Q000235:genetics*; D010100:Oxygen / Q000097:blood
D002245:Carbon Dioxide; D010100:Oxygen
Familiäre primäre chronische Hypoventilation