Different features of lung involvement in Niemann-Pick disease and Gaucher disease

• Published in: Respiratory medicine 2012-09, Vol.106 (9), p.1278-1285
• Main Authors: Gülhan, Bora, Özçelik, Uğur, Gürakan, Figen, Güçer, Şafak, Orhan, Diclehan, Cinel, Güzin, Yalçn, Ebru, Ersöz, Deniz Doğru, Kiper, Nural, Yüce, Aysel, Kale, Gülsev
• Format: Article
• Language: English
• Subjects: Biological and medical sciences; Bronchial cast; Child; Child, Preschool; Disease; Enzymes; Errors of metabolism; Female; Flexible bronchoscopy; Gaucher disease; Gaucher Disease - complications; Gaucher Disease - diagnostic imaging; Gaucher Disease - pathology; Humans; Infant; Lipids (lysosomal enzyme disorders, storage diseases); Lung Diseases - diagnostic imaging; Lung Diseases - etiology; Lung Diseases - pathology; Lung involvement; Lungs; Male; Medical sciences; Metabolic diseases; Mutation; Niemann Pick disease; Niemann-Pick Diseases - complications; Niemann-Pick Diseases - diagnostic imaging; Niemann-Pick Diseases - pathology; Pneumology; Pulmonary/Respiratory; Radiography; Respiration Disorders - diagnostic imaging; Respiration Disorders - etiology; Respiration Disorders - pathology; Respiratory Tract Infections - diagnostic imaging; Respiratory Tract Infections - etiology; Respiratory Tract Infections - pathology; Retrospective Studies
• ISSN: 0954-6111; 1532-3064
• DOI: 10.1016/j.rmed.2012.06.014

Summary Background Niemann-Pick disease (NPD) and Gaucher disease (GD) are well-known lysosomal storage diseases. Respiratory system involvement is an important cause of morbidity and mortality in patients with NPD and GD. Objectives We tried to assess the clinical, radiological, and histological features of GD and NPD patients with lung involvement. Methods We reviewed medical history, physical examination, radiological, and histological data of 10 NPD and 7 GD patients. Results The most common respiratory symptoms were recurrent lung infection and dyspnea. Although lung examination results in 6 NPD patients were normal, they had lung involvement; 3 patients were diagnosed as NPD directly via lung biopsy during investigation of recurrent lung infection or interstitial lung disease. All GD patients but 1 had respiratory system symptoms at the time of diagnosis. Hepatopulmonary syndrome was present in 4 GD patients. A ground-glass pattern and atelectasis were 2 important high-resolution computed tomography features in the NPD and GD patients. Flexible bronchoscopy and bronchoalveolar lavage were used for emergency extraction of bronchial casts in 1 NPD patient. Conclusions Lung involvement in NPD and GD patients should be included in the differential diagnosis of interstitial lung disease. Besides interstitial appearance on HRCT, atelectasis related to bronchial cast and bronchiectasis are other radiological findings in these group of patients. Analysis of bronchoalveolar fluid and lung biopsy provide very important clues for diagnosis. Hepatopulmonary syndrome is an important vascular complication observed in GD patients.