Introduction. 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. Case report. 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. Conclusion. 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.
Generation of an integration-free iPSC line, ICCSICi005-A, derived from a Parkinson's disease patient carrying the L444P mutation in the GBA1 gene