| Autor: |
Abdulelah Qadi, Aly Ezzat, Ayman Al Hejazi, Fahad Al Abbas, Ghaleb Elyamany, Hussain Al Saeed, Marwan ElBagoury, Ohoud Kashari, Sherif Roushdy, Yahia Aktham |
| Rok vydání: |
2021 |
| Předmět: |
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| DOI: |
10.2196/preprints.28607 |
| Popis: |
UNSTRUCTURED Background: Gaucher disease (GD) is the commonest form of Lysosomal storage disorders that are characterized by the accumulation of glucosylceramide within the lysosomes of cells that are ordinarily degraded to glucose and lipid components. The primary objective of this study is to determine the prevalence of Gaucher Disease in a high-risk group (defined as patients with splenomegaly and/or thrombocytopenia of unknown cause). Methods: The present multicenter, cross-sectional, study will include patients presenting with signs of splenomegaly and/or thrombocytopenia over a period of 12 months with no definitive cause. Eligible patients will be assessed for acid β-glucosidase and acid sphingomyelinase enzymes activity using dried blood spot (DBS) samples. A total of 400 patients from Saudi Arabia who fulfill the eligibility criteria will be enrolled in the study. Discussion: Saudi Arabia is the largest country in the Arabian Peninsula, with a population of more than 28 million. Despite healthcare being free to Saudi citizens, a number of potential barriers to healthcare access and individual healthcare-seeking have been reported. While Gaucher disease is a rare disease, its incidence in Saudi Arabia appears to be higher than other parts of the world. Nevertheless, no previous nationwide study was conducted to provide reliable data regarding the incidence and characteristics of Saudi patients with Gaucher Disease. There is a scarcity in the published literature regarding the treatment patterns and outcomes of Gaucher Disease in Saudi Arabia as well. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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