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Gaucher Disease in a Two-Year-Old Girl with Hyperferritinemia: A Case Report

Received: 11 March 2022     Accepted: 14 April 2022     Published: 28 April 2022
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Abstract

Gaucher Disease (GD) is the most prevalent inherited lysosomal storage disorder characterized by a glucocerebroside enzyme deficiency. This enzyme is a lysosomal hydrolase that plays a role in the breakdown of the glycosphingolipid complex. In general population, this disease is rare, with an incidence of about 0.39 to 5.80 per 100.000 birth and a prevalence of about 0.70 to 1.75 per 100.000 birth. We reported a two-year-old female patient who presented with a gradual increase of abdominal circumference and gum bleeding. There is a family history of third-degree consanguinity. Physical examination showed hepatosplenomegaly, and the laboratory results revealed the presence of hyperferritinemia and pancytopenia. Bone marrow biopsy revealed Gaucher cells. The diagnosis of GD was confirmed by a low level of glucocerebrosidase activity (0.27 uM/hr) and the presence of a homozygous mutation in exon 11 (c.1448T>C) of GBA gene, indicating an autosomal recessive GD. Conclusion: Early identification through clinical and histological findings in GD is critical. Children with unexplained hyperferritinemia and hepatosplenomegaly should be suspected of GD as one of the differential diagnosis. The early diagnosis of GD is the key to effective management, such as enzyme replacement, which may decrease its morbidity.

Published in International Journal of Genetics and Genomics (Volume 10, Issue 2)
DOI 10.11648/j.ijgg.20221002.11
Page(s) 43-47
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2022. Published by Science Publishing Group

Keywords

Gaucher Disease, Hyperferritinemia, Hepatosplenomegaly

References
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[2] Cassinerio, E., Graziadei, G., Poggiali, E. (2014). Gaucher disease: A diagnostic challenge for internists. Eur J Intern Med, 25 (2), 117-124. doi: 10.1016/j.ejim.2013.09.006.
[3] Nalysnyk, L., Rotella, P., Simeone, J. C., Hamde, A., Weinreb, N. (2017). Gaucher Disease Epidemiology and Natural History: A comprehensive Review of the Literature. Hematology, 22 (2), 65-73. doi: 10.1080/10245332.2016.1240391.
[4] Chaves, R. G., Pereira, L., Araújo, F. T., Rozenberg, R., Carvalho, M. D. F., Coelho, J. C., Cavalcanti, G. B. (2015). Consanguinity and founder effect for Gaucher disease mutation G377S in a population from Tabuleiro do Norte, Northeastern Brazil. Clin Genet, 88 (4), 391–395. doi: 10.1111/cge.12515.
[5] Mahayani, S. S., Sidiartha, I. G. L., Pratiwi, I. G. A. E. (2020). Gaucher’s Disease in a 2 Years Old Child: A Case Report. American Journal of Paediatric, 6 (3), 317-321. doi: 10.11648/j.ajp.20200603.34.
[6] Sun, A. (2018). Lysosomal storage disease overview. Ann Transl Med, 6 (24), 476. doi: 10.21037/atm.2018.11.39.
[7] Stirnemann, J., Belmatoug, N., Camou, F., Serratrice, C., Froissart, R., Caillaud, C., Berger, M. A. (2017). Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments. J Mol Sci, 18 (2), 441. doi: 10.3390/ijms18020441.
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[13] Verma, J., Thomas, D. C., Kasper, D. C., Sharma, S., Puri, R. D., Bijarnia-Mahay, S., et al. (2017). Inherited metabolic disorders: efficacy of enzyme assays on dried blood spots for the diagnosis of lysosomal storage disorders. JIMD Reports, 31: 15-27. doi: 10.1007%2F8904_2016_548.
[14] Gary, S. E., Ryan, E., Steward, A. M., Sidransky, E. (2018). Recent advances in the diagnosis and management of Gaucher disease. Expert Rev Endocrinol Metab, 13 (2), 107–118. doi: 10.1080/17446651.2018.1445524.
[15] Hughes, D., Mikosch, P., Belmatoug, N., Carubbi, F., Cox, T. M., Goker-Alpan, O., et al. (2019). Gaucher disease in bone: from pathophysiology to practice. J Bone Miner Res, 34 (6), 996-1013. doi: 10.1002/jbmr.3734.
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Cite This Article
  • APA Style

    Jessica Sugiharto, I Gusti Ayu Putu Eka Pratiwi, I Gusti Lanang Sidiartha. (2022). Gaucher Disease in a Two-Year-Old Girl with Hyperferritinemia: A Case Report. International Journal of Genetics and Genomics, 10(2), 43-47. https://doi.org/10.11648/j.ijgg.20221002.11

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    ACS Style

    Jessica Sugiharto; I Gusti Ayu Putu Eka Pratiwi; I Gusti Lanang Sidiartha. Gaucher Disease in a Two-Year-Old Girl with Hyperferritinemia: A Case Report. Int. J. Genet. Genomics 2022, 10(2), 43-47. doi: 10.11648/j.ijgg.20221002.11

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    AMA Style

    Jessica Sugiharto, I Gusti Ayu Putu Eka Pratiwi, I Gusti Lanang Sidiartha. Gaucher Disease in a Two-Year-Old Girl with Hyperferritinemia: A Case Report. Int J Genet Genomics. 2022;10(2):43-47. doi: 10.11648/j.ijgg.20221002.11

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  • @article{10.11648/j.ijgg.20221002.11,
      author = {Jessica Sugiharto and I Gusti Ayu Putu Eka Pratiwi and I Gusti Lanang Sidiartha},
      title = {Gaucher Disease in a Two-Year-Old Girl with Hyperferritinemia: A Case Report},
      journal = {International Journal of Genetics and Genomics},
      volume = {10},
      number = {2},
      pages = {43-47},
      doi = {10.11648/j.ijgg.20221002.11},
      url = {https://doi.org/10.11648/j.ijgg.20221002.11},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijgg.20221002.11},
      abstract = {Gaucher Disease (GD) is the most prevalent inherited lysosomal storage disorder characterized by a glucocerebroside enzyme deficiency. This enzyme is a lysosomal hydrolase that plays a role in the breakdown of the glycosphingolipid complex. In general population, this disease is rare, with an incidence of about 0.39 to 5.80 per 100.000 birth and a prevalence of about 0.70 to 1.75 per 100.000 birth. We reported a two-year-old female patient who presented with a gradual increase of abdominal circumference and gum bleeding. There is a family history of third-degree consanguinity. Physical examination showed hepatosplenomegaly, and the laboratory results revealed the presence of hyperferritinemia and pancytopenia. Bone marrow biopsy revealed Gaucher cells. The diagnosis of GD was confirmed by a low level of glucocerebrosidase activity (0.27 uM/hr) and the presence of a homozygous mutation in exon 11 (c.1448T>C) of GBA gene, indicating an autosomal recessive GD. Conclusion: Early identification through clinical and histological findings in GD is critical. Children with unexplained hyperferritinemia and hepatosplenomegaly should be suspected of GD as one of the differential diagnosis. The early diagnosis of GD is the key to effective management, such as enzyme replacement, which may decrease its morbidity.},
     year = {2022}
    }
    

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  • TY  - JOUR
    T1  - Gaucher Disease in a Two-Year-Old Girl with Hyperferritinemia: A Case Report
    AU  - Jessica Sugiharto
    AU  - I Gusti Ayu Putu Eka Pratiwi
    AU  - I Gusti Lanang Sidiartha
    Y1  - 2022/04/28
    PY  - 2022
    N1  - https://doi.org/10.11648/j.ijgg.20221002.11
    DO  - 10.11648/j.ijgg.20221002.11
    T2  - International Journal of Genetics and Genomics
    JF  - International Journal of Genetics and Genomics
    JO  - International Journal of Genetics and Genomics
    SP  - 43
    EP  - 47
    PB  - Science Publishing Group
    SN  - 2376-7359
    UR  - https://doi.org/10.11648/j.ijgg.20221002.11
    AB  - Gaucher Disease (GD) is the most prevalent inherited lysosomal storage disorder characterized by a glucocerebroside enzyme deficiency. This enzyme is a lysosomal hydrolase that plays a role in the breakdown of the glycosphingolipid complex. In general population, this disease is rare, with an incidence of about 0.39 to 5.80 per 100.000 birth and a prevalence of about 0.70 to 1.75 per 100.000 birth. We reported a two-year-old female patient who presented with a gradual increase of abdominal circumference and gum bleeding. There is a family history of third-degree consanguinity. Physical examination showed hepatosplenomegaly, and the laboratory results revealed the presence of hyperferritinemia and pancytopenia. Bone marrow biopsy revealed Gaucher cells. The diagnosis of GD was confirmed by a low level of glucocerebrosidase activity (0.27 uM/hr) and the presence of a homozygous mutation in exon 11 (c.1448T>C) of GBA gene, indicating an autosomal recessive GD. Conclusion: Early identification through clinical and histological findings in GD is critical. Children with unexplained hyperferritinemia and hepatosplenomegaly should be suspected of GD as one of the differential diagnosis. The early diagnosis of GD is the key to effective management, such as enzyme replacement, which may decrease its morbidity.
    VL  - 10
    IS  - 2
    ER  - 

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Author Information
  • Faculty of Medicine, Udayana University, Denpasar, Indonesia

  • Faculty of Medicine, Udayana University, Denpasar, Indonesia

  • Faculty of Medicine, Udayana University, Denpasar, Indonesia

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