title: Pulmonary involvement in siblings with Gaucher disease type III.
abstract: BACKGROUND
  Pulmonary involvement has been described in all types of Gaucher disease (GD) but it is considered as relatively rare manifestation. There are reports suggesting that homozygosity for L444P mutation in GBA gene is associated with a substantial risk for developing primary pulmonary disease in GD.
  
  
  METHODS
  We reported sisters with pulmonary involvement in GD type III. Respiratory failure with fatal outcome at 3 years and 4 months of age occurred in K.K. due to pulmonary complications of GD. At the time enzyme replacement therapy (ERT) was not available in Serbia. J.K., homozygous for L444P mutation, developed asymptomatic pulmonary involvement at the age of 6 after 2.5 years of ERT. Pulmonary disease in J.K. was verified by high resolution computerized tomography, cytology of bronchoalveolar lavage fluid and histopathology of transbronchial lung biopsy.
  
  
  CONCLUSIONS
  Primary lung disease in children homoallelic for L444P mutation in GBA gene emerges as a significant clinical manifestation of GD with unclear response to ERT.
authors.affiliation: Mother and Child Health Care Institute of Serbia "dr Vukan Cupić", Belgrade, Serbia.
authors.forename: Maja
authors.initials: M
authors.lastname: Djordjević
authors.forename: Predrag
authors.initials: P
authors.lastname: Minić
authors.forename: Adrijan
authors.initials: A
authors.lastname: Sarajlija
authors.forename: Slavisa M
authors.initials: SM
authors.lastname: Djuricic
authors.forename: Dragomir
authors.initials: D
authors.lastname: Djokić
authors.forename: Obren
authors.initials: O
authors.lastname: Marković
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D005776:Gaucher Disease / Q000150:complications* / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D008171:Lung Diseases / Q000150:complications* / Q000235:genetics