title: Pleural tuberculosis in a patient with untreated type 1 Gaucher disease.
abstract: Gaucher disease (GD) is an autosomal recessive glycolipid storage disorder, due to deficiency of the lysosomal enzyme glucocerebrosidase, leading to accumulation of the substrate glucocerebroside in the cells of the macrophage-monocyte system. Patients with GD have alteration in their immune system and impaired microbicidal capacity of mononuclear phagocytes. It has also been demonstrated that monocyte dysfunction may correlate with the plasma glucocerebrosidase concentrations. Tuberculosis (TB) is a major public health problem in developing countries. Pleural TB is one of the most common forms of extra-pulmonary TB. Since immune system can be impaired due to the deficiency of glucocerebrosidase in various ways, TB can be observed in patients with GD especially when left untreated. Cytopenia(s) is also general finding in untreated Gaucher patients, and they may be observed most frequently due to the infiltration of the bone marrow with Gaucher cells together with the additional factor of splenomegaly. We herein present a case of an adult patient with heterozygous untreated GD1, who developed pleural TB complicated by ipsilateral pulmonary fibrosis. Before his admission to our clinic, pleurectomy operation was performed and 4-drug combination anti-TB therapy was initiated including isoniazid, rifampicin, ethambutol and pyrazinamide. Fever complaint was disappeared with anti-TB treatment but he also had fatigue and pain. After initiation of enzyme replacement therapy in addition to anti-TB treatment, clinical and hematological improvement was observed. To our knowledge, this is the first reported case of GD1 with pleural TB.
authors.affiliation: Department of Internal Medicine, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey.
authors.forename: Ozgecan
authors.initials: O
authors.lastname: Dulgar
authors.affiliation: Division of Hematology, Department of Internal Medicine, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey. Electronic address: emreeskazan@hotmail.com.
authors.forename: Ahmet Emre
authors.initials: AE
authors.lastname: Eskazan
authors.affiliation: Department of Thoracic Surgery, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey.
authors.forename: Ezel
authors.initials: E
authors.lastname: Ersen
authors.affiliation: Department of Pathology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey.
authors.forename: Ahu Senem
authors.initials: AS
authors.lastname: Demiroz
authors.affiliation: Department of Thoracic Surgery, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey.
authors.forename: Akif
authors.initials: A
authors.lastname: Turna
authors.affiliation: Department of Pathology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey.
authors.forename: Buge
authors.initials: B
authors.lastname: Oz
authors.affiliation: Department of Pathology, Cerrahpasa Faculty of Medicine, Istanbul University, Istanbul, Turkey.
authors.forename: Nukhet
authors.initials: N
authors.lastname: Tuzuner
mesh_terms: D000328:Adult; D000995:Antitubercular Agents / Q000627:therapeutic use*; D004359:Drug Therapy, Combination; D004977:Ethambutol / Q000627:therapeutic use; D005776:Gaucher Disease / Q000150:complications* / Q000503:physiopathology; D006801:Humans; D007538:Isoniazid / Q000627:therapeutic use; D008297:Male; D011658:Pulmonary Fibrosis / Q000150:complications*; D011718:Pyrazinamide / Q000627:therapeutic use; D012293:Rifampin / Q000627:therapeutic use; D014396:Tuberculosis, Pleural / Q000150:complications* / Q000188:drug therapy / Q000503:physiopathology; D014421:Turkey
chemical_list: D000995:Antitubercular Agents; D011718:Pyrazinamide; D004977:Ethambutol; D007538:Isoniazid; D012293:Rifampin
keywords: Gaucher disease; Glucocerebrosidase; Immune system; Tuberculosis