title: Recurrent pulmonary aspergillosis and mycobacterial infection in an unsplenectomized patient with type 1 Gaucher disease.
abstract: BACKGROUND
  The clinical presentation of Gaucher disease (GD), an inherited lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme glucocerebrosidase, is highly variable, and three clinical types are distinguished based upon the presence of neurologic symptoms. Thrombocytopenia, anemia, hepatosplenomegaly, and bone manifestations are the most typical signs of GD type 1 (GD1).
  
  
  METHODS
  We present the case of an unsplenectomized man suffering from heterozygous GD1 with mutations of c.1226A>G (N370S) and RecNci I (L444P, A456P, and V460V) in the GBA1 gene, who developed recurrent pulmonary aspergillosis caused by Aspergillus fumigatus and a mycobacterial infection caused by Mycobacterium avium. Despite long-lasting therapy of both aspergillosis (including antifungal drugs and surgery), and the mycobacterial infection (triple therapy with rifampicin, ethambutol, and clarithromycin), recurrent positivity for M. avium and A. fumigatus was detected.
  
  
  CONCLUSIONS
  Symptomatic lung involvement and an increased susceptibility to pulmonary infections are uncommon in GD and, if present, are often associated with more severe disease manifestations. To our knowledge, this is the first published report on the association of GD and pulmonary aspergillosis and mycobacterial infection. It illustrates the increased susceptibility of untreated GD patients to opportunistic pulmonary infections and ineffective eradication of these infections despite adequate therapy.
authors.affiliation: Hematology Center Karolinska, Karolinska University Hospital Huddinge , Stockholm , Sweden.
authors.forename: Maciej
authors.initials: M
authors.lastname: Machaczka
authors.forename: Fryderyk
authors.initials: F
authors.lastname: Lorenz
authors.forename: Grazina
authors.initials: G
authors.lastname: Kleinotiene
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Bulanda
authors.forename: Alicja
authors.initials: A
authors.lastname: Markuszewska-Kuczyńska
authors.forename: Juozas
authors.initials: J
authors.lastname: Raistenskis
authors.forename: Monika
authors.initials: M
authors.lastname: Klimkowska
mesh_terms: D000368:Aged; D000890:Anti-Infective Agents / Q000008:administration & dosage / Q000627:therapeutic use; D005776:Gaucher Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D009164:Mycobacterium Infections / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D055732:Pulmonary Aspergillosis / Q000150:complications / Q000175:diagnosis* / Q000188:drug therapy; D012008:Recurrence; D013156:Splenectomy
chemical_list: D000890:Anti-Infective Agents