Pulmonary involvement in siblings with Gaucher disease type III
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...
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| Format: | Article |
| Language: | English |
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Ministry of Defence of the Republic of Serbia, University of Defence, Belgrade
2011-01-01
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| Series: | Vojnosanitetski Pregled |
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| Online Access: | http://www.doiserbia.nb.rs/img/doi/0042-8450/2011/0042-84501112071D.pdf |
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| author | Đorđević Maja Minić Predrag Sarajlija Adrijan Đuričić Slaviša M. Đokić Dragomir Marković Obren |
| author_facet | Đorđević Maja Minić Predrag Sarajlija Adrijan Đuričić Slaviša M. Đokić Dragomir Marković Obren |
| author_sort | Đorđević Maja |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-6eccc1afd989434a8bb98f2ec47d6102 |
| institution | OA Journals |
| issn | 0042-8450 |
| language | English |
| publishDate | 2011-01-01 |
| publisher | Ministry of Defence of the Republic of Serbia, University of Defence, Belgrade |
| record_format | Article |
| series | Vojnosanitetski Pregled |
| spelling | doaj-art-6eccc1afd989434a8bb98f2ec47d61022025-08-20T02:06:19ZengMinistry of Defence of the Republic of Serbia, University of Defence, BelgradeVojnosanitetski Pregled0042-84502011-01-0168121071107410.2298/VSP1112071DPulmonary involvement in siblings with Gaucher disease type IIIĐorđević MajaMinić PredragSarajlija AdrijanĐuričić Slaviša M.Đokić DragomirMarković ObrenIntroduction. 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.http://www.doiserbia.nb.rs/img/doi/0042-8450/2011/0042-84501112071D.pdfGaucher diseasegenetic diseases, inbornmutationlung diseasestreatment outcome |
| spellingShingle | Đorđević Maja Minić Predrag Sarajlija Adrijan Đuričić Slaviša M. Đokić Dragomir Marković Obren Pulmonary involvement in siblings with Gaucher disease type III Vojnosanitetski Pregled Gaucher disease genetic diseases, inborn mutation lung diseases treatment outcome |
| title | Pulmonary involvement in siblings with Gaucher disease type III |
| title_full | Pulmonary involvement in siblings with Gaucher disease type III |
| title_fullStr | Pulmonary involvement in siblings with Gaucher disease type III |
| title_full_unstemmed | Pulmonary involvement in siblings with Gaucher disease type III |
| title_short | Pulmonary involvement in siblings with Gaucher disease type III |
| title_sort | pulmonary involvement in siblings with gaucher disease type iii |
| topic | Gaucher disease genetic diseases, inborn mutation lung diseases treatment outcome |
| url | http://www.doiserbia.nb.rs/img/doi/0042-8450/2011/0042-84501112071D.pdf |
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