An Overview of Gaucher Disease
Background: Gaucher disease (GD) is a rare autosomal recessive disorder caused by mutations in the GBA1 gene that lead to a deficiency in the glucocerebrosidase gene. This deficiency results in the accumulation of glucocerebrosides in macrophages, primarily affecting the liver, spleen, and bone marr...
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MDPI AG
2024-12-01
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| Online Access: | https://www.mdpi.com/2075-4418/14/24/2840 |
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| author | Daniela Anahí Méndez-Cobián Sandra Guzmán-Silahua Diana García-Hernández Julian Conde-Sánchez Yaocihuatl Castañeda-Borrayo Kylee Louise Duey Maria G. Zavala-Cerna Benjamín Rubio-Jurado Arnulfo Hernán Nava-Zavala |
| author_facet | Daniela Anahí Méndez-Cobián Sandra Guzmán-Silahua Diana García-Hernández Julian Conde-Sánchez Yaocihuatl Castañeda-Borrayo Kylee Louise Duey Maria G. Zavala-Cerna Benjamín Rubio-Jurado Arnulfo Hernán Nava-Zavala |
| author_sort | Daniela Anahí Méndez-Cobián |
| collection | DOAJ |
| description | Background: Gaucher disease (GD) is a rare autosomal recessive disorder caused by mutations in the GBA1 gene that lead to a deficiency in the glucocerebrosidase gene. This deficiency results in the accumulation of glucocerebrosides in macrophages, primarily affecting the liver, spleen, and bone marrow. Focusing on the Mexican population, this study aims to review GD’s epidemiology, clinical manifestations, and treatment options to enhance early diagnosis and optimize treatment outcomes. Methods: This study is a comprehensive literature review analyzing epidemiological data, clinical presentations, and current therapeutic approaches for Gaucher disease, including enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). Conclusions: Early diagnosis and individualized treatment, primarily through enzyme replacement therapy, significantly improve the prognosis of patients with Gaucher disease, particularly type 1. Continued research is required to enhance therapeutic approaches for the neuropathic types and better understand the disease’s epidemiology in Mexico. These efforts will contribute to improved clinical outcomes and quality of life for patients. |
| format | Article |
| id | doaj-art-8031d48b9ac540639df0b25cd40ad91e |
| institution | OA Journals |
| issn | 2075-4418 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj-art-8031d48b9ac540639df0b25cd40ad91e2025-08-20T02:00:37ZengMDPI AGDiagnostics2075-44182024-12-011424284010.3390/diagnostics14242840An Overview of Gaucher DiseaseDaniela Anahí Méndez-Cobián0Sandra Guzmán-Silahua1Diana García-Hernández2Julian Conde-Sánchez3Yaocihuatl Castañeda-Borrayo4Kylee Louise Duey5Maria G. Zavala-Cerna6Benjamín Rubio-Jurado7Arnulfo Hernán Nava-Zavala8Unidad de Investigación Epidemiológica y en Servicios de Salud, Centro Médico Nacional de Occidente Órgano de Operación Administrativa Desconcentrada Jalisco, Instituto Mexicano del Seguro Social, Guadalajara 44329, Jalisco, MexicoUnidad de Investigación Epidemiológica y en Servicios de Salud, Centro Médico Nacional de Occidente Órgano de Operación Administrativa Desconcentrada Jalisco, Instituto Mexicano del Seguro Social, Guadalajara 44329, Jalisco, MexicoUnidad de Investigación Epidemiológica y en Servicios de Salud, Centro Médico Nacional de Occidente Órgano de Operación Administrativa Desconcentrada Jalisco, Instituto Mexicano del Seguro Social, Guadalajara 44329, Jalisco, MexicoUnidad de Investigación Epidemiológica y en Servicios de Salud, Centro Médico Nacional de Occidente Órgano de Operación Administrativa Desconcentrada Jalisco, Instituto Mexicano del Seguro Social, Guadalajara 44329, Jalisco, MexicoUnidad de Investigación Epidemiológica y en Servicios de Salud, Centro Médico Nacional de Occidente Órgano de Operación Administrativa Desconcentrada Jalisco, Instituto Mexicano del Seguro Social, Guadalajara 44329, Jalisco, MexicoSchool of Medicine International Program, Universidad Autónoma de Guadalajara, Av. Patria 1201, Zapopan 45129, Jalisco, MexicoImmunology Research Laboratory, Decanato Medicina, Universidad Autónoma de Guadalajara, Zapopan 45129, Jalisco, MexicoUnidad de Investigación Epidemiológica y en Servicios de Salud, Centro Médico Nacional de Occidente Órgano de Operación Administrativa Desconcentrada Jalisco, Instituto Mexicano del Seguro Social, Guadalajara 44329, Jalisco, MexicoUnidad de Investigación Epidemiológica y en Servicios de Salud, Centro Médico Nacional de Occidente Órgano de Operación Administrativa Desconcentrada Jalisco, Instituto Mexicano del Seguro Social, Guadalajara 44329, Jalisco, MexicoBackground: Gaucher disease (GD) is a rare autosomal recessive disorder caused by mutations in the GBA1 gene that lead to a deficiency in the glucocerebrosidase gene. This deficiency results in the accumulation of glucocerebrosides in macrophages, primarily affecting the liver, spleen, and bone marrow. Focusing on the Mexican population, this study aims to review GD’s epidemiology, clinical manifestations, and treatment options to enhance early diagnosis and optimize treatment outcomes. Methods: This study is a comprehensive literature review analyzing epidemiological data, clinical presentations, and current therapeutic approaches for Gaucher disease, including enzyme replacement therapy (ERT) and substrate reduction therapy (SRT). Conclusions: Early diagnosis and individualized treatment, primarily through enzyme replacement therapy, significantly improve the prognosis of patients with Gaucher disease, particularly type 1. Continued research is required to enhance therapeutic approaches for the neuropathic types and better understand the disease’s epidemiology in Mexico. These efforts will contribute to improved clinical outcomes and quality of life for patients.https://www.mdpi.com/2075-4418/14/24/2840Gaucher diseasehereditary diseaselysosomal storage diseasestreatment |
| spellingShingle | Daniela Anahí Méndez-Cobián Sandra Guzmán-Silahua Diana García-Hernández Julian Conde-Sánchez Yaocihuatl Castañeda-Borrayo Kylee Louise Duey Maria G. Zavala-Cerna Benjamín Rubio-Jurado Arnulfo Hernán Nava-Zavala An Overview of Gaucher Disease Diagnostics Gaucher disease hereditary disease lysosomal storage diseases treatment |
| title | An Overview of Gaucher Disease |
| title_full | An Overview of Gaucher Disease |
| title_fullStr | An Overview of Gaucher Disease |
| title_full_unstemmed | An Overview of Gaucher Disease |
| title_short | An Overview of Gaucher Disease |
| title_sort | overview of gaucher disease |
| topic | Gaucher disease hereditary disease lysosomal storage diseases treatment |
| url | https://www.mdpi.com/2075-4418/14/24/2840 |
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