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. |
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Copyright © The Author(s), 2024. Published by Science Publishing Group |
Gaucher Disease, Hyperferritinemia, Hepatosplenomegaly
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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
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
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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Download@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}
}
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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