Blunted Hypercapnic Respiratory Drive Response in Subjects With Late-Onset Pompe Disease
نویسندگان
چکیده
منابع مشابه
Late-onset Pompe Disease with Elevated Liver Transaminases: A Case Report
Pompe disease or type II glycogen storage disease is a rare autosomal hereditary disease. The prevalence of the disease is about 1 in 40,000 to 1 in 300,000 population. It usually occurs as a result of glycogen accretion following acid maltase deficiency. The current treatment is enzyme replacement therapy, which may slow down the disease progression. Sometimes, the clinical presentation can be...
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background pompe disease is an inherited metabolic disorder characterized by α-glycosidase deficiency, which leads to lysosomal glycogen accumulation in many different tissues. the infantile form is the most severe with a rapidly fatal outcome, while the late onset form has a greater phenotypic variability, characterized by skeletal muscle dysfunction and early respiratory involvement. bone min...
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PURPOSE In Pompe disease, a deficiency of acid α-glucosidase enzyme activity leads to pathologic accumulation of glycogen in tissues. Phenotype heterogeneity in Pompe includes an infantile form and late-onset forms (juvenile- and adult-onset forms). Symptoms common to all phenotypes include progressive muscle weakness and worsening respiratory function. Patients with late-onset forms of Pompe d...
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Gastrointestinal problems including dysphagia (5/58, resulting in aspiration in 2), constipation (10/58), poor nutrition (20/58) were common and volvulus occurred in 1 patient. Fatigue and diffi culties with concentration were common. Cerebral vascular anomalies were found in 2 of 10 patients screened, with 1 patient presenting with intracranial haemorrhage. Pain was seen frequently, with both ...
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The pathophysiology of failure to wean from mechanical ventilation consists of depressed central respiratory drive, impaired respiratory mechanics, respiratory muscle weakness, increased load, impaired gas exchange, and compromised cardiovascular performance. Among patients with weaning failure, depressed central respiratory drive occurs in only a small portion (approximately 10%),1 whereas mos...
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ژورنال
عنوان ژورنال: Respiratory Care
سال: 2016
ISSN: 0020-1324,1943-3654
DOI: 10.4187/respcare.03940