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

Friedreich's Ataxia (F.A.) is a degenerative disease which commonly leads to premature death of cardiorespiratory origin. To explain the early death of these patients, previous investigations have established the existence of 1) a cardiomyopathy in nearly 100% of cases, 2) a restrictive pulmonary syndrome of scoliotic origin and 3) a mild hypoxemia associated with slight respiratory alkalosis and a normal oxyhemoglobin dissociation curve. To further assess the cause of early death in patients with such neuromyopathy, we evaluated, in eleven F.A. patients, the sensitivity of the respiratory centers to hypercapnia, hypoxia, and hyperoxia. Ventilatory (VE, VT, F, VT/Ti) and occlusion pressure (P0.1) responses were taken as indices of the respiratory centers output during progressive hypercapnia (Read's method) and isocarbic hypoxia (Weil's method). We studied 11 Friedreich's Ataxia patients and 11 age, sex, and armspan matched controls. The responses of patients to hypercapnia were significantly greater than controls but their responses to hypoxia were similar to controls. Our study establishes that the respiratory centers are functioning adequately in early Friedreich's Ataxia and do not contribute to cardio-respiratory insufficiency in such neuromyopathy.
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PMID:Regulation of respiration in Friedreich's ataxia. 48 4

A case of Cushing's syndrome associated with chronic respiratory failure is presented. Although arterial blood gas analysis showed severe metabolic alkalosis, hypoxemia and mild hypercapnia, the patient had no evidence of pulmonary disease or neuromuscular disorder. Voluntary hyperventilation and inhalation of 100% oxygen (O2) revealed normalized arterial oxygen tension (PaO2). Following the recovery from metabolic alkalosis by the treatment with potassium chloride, PaO2 was elevated and arterial carbon dioxide tension (PaCO2) was lowered. Therefore, it was strongly suggested that the main cause of chronic respiratory failure was compensatory alveolar hypoventilation as a response to metabolic alkalosis.
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PMID:A case of Cushing's syndrome associated with chronic respiratory failure due to metabolic alkalosis. 161 Nov 92

Neuromuscular diseases cause many changes that affect ventilation and ventilatory control. The pattern of ventilation may become abnormal because of muscle disease. Muscle fatigue and discordant breathing can lead to hypoventilation and CO2 retention. Motoneuron destructive and demyelinating disorders inevitably lead to hypoventilation and hypercapnia. Changes in chest wall mechanics can lead to changes in level of ventilation and ventilatory drive. In many neuromuscular disorders, ventilatory response to CO2 is depressed, but this does not imply an abnormal central control mechanism in all instances. Many patients with neuromuscular diseases have a normal ventilatory drive as manifested by a normal P0.1 but have low ventilation because of abnormalities in muscle function and neuromuscular transmission. Central drive is diminished in some patients with neuromuscular disease but not in the majority of cases. Hypoventilation during sleep is a common problem in neuromuscular diseases. Thus, a combination of factors can lead to abnormal patterns of breathing and hypoventilation in these disorders; no single pathophysiologic mechanism can explain all the abnormalities. Clinically, it is important to appreciate the prevalence of ventilatory control disorders and include appropriate evaluations when assessing patients with neuromuscular diseases and offering therapeutic options.
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PMID:Central control of ventilation in neuromuscular disease. 786 78

A 13-year-old boy with juvenile-onset acid alpha glucosidase deficiency was reported. Proximal muscle weakness including respiratory muscles and scoliosis progressed since nine year of age. He developed nocturnal dyspnea and daytime somnolence at age 13. His arterial blood gas analysis showed hypoxemia (PO2 54.1 mmHg) and hypercapnia (PCO2 72.3 mmHg), and spirometry showed significantly decreased vital capacity (% VC 21%). He was treated with nocturnal NIPPV employing a device for delivering bilevel positive airway pressure (Bi-PAP). Nocturnal dyspnea and daytime somnolence rapidly disappeared with nocturnal ventilatory support. Daytime arterial PO2 and PCO2 improved after the therapy, namely 74.8 mmHg and 64.1 mmHg respectively. We conclude that NIPPV is a noninvasive and effective therapy for respiratory failure in patients with chronic progressive neuromuscular disorder including acid alpha glucosidase deficiency.
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PMID:[Chronic respiratory failure in a case with juvenile-onset acid alpha-glucosidase deficiency; successful therapy with nasal intermittent positive pressure ventilation (NIPPV)]. 898 97