Varied autopsy findings in five treated patients with Gaucher disease and parkinsonism include the absence of Gaucher cells

Monestime, Gianina; Borger, Daniel K.; Kim, Jenny; Lopez, Grisel; Allgäuer, Michael; Jain, Dhanpat; Vortmeyer, Alexander O.; Wang, Hao Wei; Sidransky, Ellen

doi:10.1016/j.ymgme.2016.02.008

Cited by 5 publications

(6 citation statements)

References 11 publications

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“…The one who received higher doses of ERT (100 IU/kg/week) still showed more severe and extensive Gaucher cell infiltrations in organs at autopsy. These poor ERT responses point out the complexity of pathophysiology in GD and the influences of varies penetrations ability in organs, possible by the differentiate expression of the mannose receptors on the tissue macrophages which not only affect the uptake rate but also proper trafficking to the lysosome once the exogenous ERT is internalized in the cell [5,21,22].…”

Section: Discussionmentioning

confidence: 99%

Very rare condition of multiple Gaucheroma: A case report and review of the literature

Tseng

Niu

Chu

et al. 2019

Molecular Genetics and Metabolism Reports

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Background This study presented a 3 years old boy with Gaucher disease (GD) who was treated with enzyme replacement therapy (ERT) for 19 months and then developed multiple Gaucheroma. Review of literature was performed simultaneously. Methods The medical chart and literature were reviewed. A boy presented at the age of 15 months with anemia, thrombocytopenia, and hepatosplenomegaly. GD was confirmed by enzyme assay and gene mutations. ERT was administered right after the diagnosis. When the boy was 3 years old, multiple masses were discovered during a regular checkup abdominal MRI and biopsy revealed Gaucheroma. We also reviewed 20 GD patients with Gaucheroma and Gaucher cell infiltrated lymphadenopathies. Conclusion Gaucheroma is a rare condition of regularly treated GD patients. This patient even showed poor response to doubled ERT doses. The imaging studies are necessary for Gaucher patients to detect Gaucheroma and determine their malignancy. Regular checkups are recommended in all GD patients even with regular treatment, due to the possibility of having deteriorating change, like Gaucheroma.

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Section: Discussionmentioning

confidence: 99%

Very rare condition of multiple Gaucheroma: A case report and review of the literature

Tseng

Niu

Chu

et al. 2019

Molecular Genetics and Metabolism Reports

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“…The responses of ERT vary in different organs and even in patients who share the same mutation [20]. These poor ERT responses point out the more complex pathophysiology in GD and the influences of varies penetrations ability in organs, possible by the differentiated expression of the mannose receptors on the tissue macrophages which not only affect the uptake rate but also proper trafficking to the lysosome once the exogenous ERT is internalized in the cell [5,21,22].…”

Section: Discussionmentioning

confidence: 99%

WITHDRAWN: Very rare condition of multiple Gaucheroma: A case report and review of the literature

Tseng

Niu

Chu

et al. 2019

Molecular Genetics and Metabolism Reports

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Background This study presented a 3 years old boy with Gaucher disease (GD) who was treated with enzyme replacement therapy(ERT) for 19 months and developed multiple Gaucheroma. The literature was reviewed. Methods The medical chart and literature were reviewed. A boy presented at the age of 15 months with anemia, thrombocytopenia, and hepatosplenomegaly. Enzyme assay and gene mutations confirmed GD. ERT was administered. When the boy was 3 years old, multiple masses were discovered from abdominal MRI and biopsy revealed Gaucheroma. We reviewed 20 GD patients with Gaucheroma and Gaucher cell infiltrated lymphadenopathies. Conclusion Gaucheroma is a rare condition in regularly treated GD patients. This patient showed poor response to doubled ERT doses. The imaging studies are necessary for Gaucher patients to detect Gaucheroma and determine their malignancy. Regular checkups are recommended in all GD patients even with ERT treatment, due to the possibility of having a deteriorating change, like Gaucheroma.

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“…Clearly, much progress needs to occur in the areas pertaining to accurate predictive phenotyping based on clinical annotation, imaging, biomarkers and modifier genes. Two recent studies detailing the autopsy findings in treated patients with Gaucher disease have demonstrated variability in response, both in different patients and in different organs [110, 111]. …”

Section: Current Therapies For Gaucher Diseasementioning

confidence: 99%

Gaucher disease: Progress and ongoing challenges

Mistry

Lopez

Schiffmann³

et al. 2017

Molecular Genetics and Metabolism

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125

113

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Over the past decades, tremendous progress has been made in the field of Gaucher disease, the inherited deficiency of the lysosomal enzyme glucocerebrosidase. Many of the colossal achievements took place during the course of the sixty-year tenure of Dr. Roscoe Brady at the National Institutes of Health. These include the recognition of the enzymatic defect involved, the isolation and characterization of the protein, the localization and characterization of the gene and its nearby pseudogene, as well as the identification of the first mutant alleles in patients. The first treatment for Gaucher disease, enzyme replacement therapy, was conceived of, developed and tested at the Clinical Center of the National Institutes of Health. Advances including recombinant production of the enzyme, the development of mouse models, pioneering gene therapy experiments, high throughput screens of small molecules and the generation of induced pluripotent stem cell models have all helped to catapult research in Gaucher disease into the twenty-first century. The appreciation that mutations in the glucocerebrosidase gene are an important risk factor for parkinsonism further expands the impact of this work. However, major challenges still remain, some of which are described here, that will provide opportunities, excitement and discovery for the next generations of Gaucher investigators.

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Varied autopsy findings in five treated patients with Gaucher disease and parkinsonism include the absence of Gaucher cells

Cited by 5 publications

References 11 publications

Very rare condition of multiple Gaucheroma: A case report and review of the literature

Very rare condition of multiple Gaucheroma: A case report and review of the literature

WITHDRAWN: Very rare condition of multiple Gaucheroma: A case report and review of the literature

Gaucher disease: Progress and ongoing challenges

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