Pulmonary involvement in Type 1 Gaucher disease: functional and exercise findings in patients with and without clinical interstitial lung disease

摘要: Pulmonary disease is a well-known complication of Type 1 Gaucher (GD), although its incidence not well established and severity varies. The purpose this study was to determine the frequency extent pulmonary involvement in patients with GD. assessed by history, physical examination chest radiograph 150 consecutive GD presenting at specialized center for genetic diseases. Five were noted have clinical evidence involvement. Full function tests performed these five an additional 13 randomly selected from remaining 145. Many 18 also underwent radionuclide body imaging 67 Gallium citrate 111Indium-tagged leucocyte scans, as incremental cardiorespiratory exercise tests. Lung biopsies available two lung disease, second tissue one post-mortem. Clinical detected patients. All had dyspnea, diffuse infiltrates, restrictive impairment low single breath CO diffusing capacity (DLCOSB). Two testing showed abnormalities consistent (ventilatory limitation, excessive ventilation increased dead space) decreased VO2 max. anaerobic threshold (AT). In contrast, other patients, examination, radiographs normal (except DLCOSB patient). Responses on (performed six patients) circulatory (decreased AT). Our found that <5% interstitial disease. addition, we some without evident involvement, may experience limitations exertion are easily fatigued; attributable impaired circulation.