Gaucher disease. Presentation of a clinical case and literature review

Valdés-Díaz, Karen; Fariña-Lamadrid, Raymond; Artiles-Martínez, Daniel; López, Jesús Adrián

doi:10.1016/j.htct.2020.04.006

Cited by 3 publications

(5 citation statements)

References 7 publications

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“…Measurement of the action of beta-glucocerebrosidase on blood leukocytes aids in the suspicion of GD, but definitive analysis requires a complementary molecular study (VALDÉS-DÍAZ et al, 2022).…”

Section: Discussionmentioning

confidence: 99%

Gaucher disease: A diagnostic approach, clinical evolution and review

Silva,

Souza,

Castro

et al. 2023

Harmony of Knowledge: Exploring Interdisciplinary Synergie

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Introducion: Gaucher disease is an inherited metabolic disorder caused by a mutation in the GBA1 gene, resulting in deficiency of the enzyme beta-glucosidase and accumulation of glucocerebroside in tissues. This disease, which is an autosomal recessive inheritance, affects organs such as the spleen, liver, bone marrow and central nervous system. Case Presentation: A 23-year-old male was referred to the internal medicine service for evaluation of hepatosplenomegaly and anemia. She reports persistent lower extremity pain for a period of 5 years and increased abdominal volume. No history of comorbidities or regular use of medication. Discussion: There are three phenotypes of the disease with varied clinical manifestations: type I (non-neuropathic) is the most common, type II (acute neuropathic) is more severe, with acute neurological impairment and poor prognosis, and type III (chronic neuropathic) is less severe. The incidence is estimated at 1 in 60,000 in the general population. The main symptoms include hepatosplenomegaly, thrombocytopenia, anemia, and bone pain. Based on the premise that Gaucher Disease is difficult to diagnose early due to the similar clinical picture with different diseases, this work aims to delimit the signs and symptoms of the disease and its most affected age group to cover a greater recognition of this rare condition, facilitating the appropriate treatment of these patients. Conclusion: The analysis of the articles showed that the diagnosis is made through acid beta-glucosidase enzyme activity tests or detection of Gaucher cells in tissues and its treatment involves specific enzyme replacement, such as the use of alpha- taglycerase.

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Section: Discussionmentioning

confidence: 99%

Gaucher disease: A diagnostic approach, clinical evolution and review

Silva,

Souza,

Castro

et al. 2023

Harmony of Knowledge: Exploring Interdisciplinary Synergie

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“…Electron microscopy reveals presence of elongated lysosomes loaded with lipids that are accumulated in double layer. [3] We report one rare case. On general physical examination, pallor was present.…”

Section: Introductionmentioning

confidence: 90%

“…Enzyme replacement therapy is now available and includes imiglucerase, velaglucerase alfa, and taliglucerase alfa. [3] However these are extremely expensive in Indian scenario. Oral substrate reduction therapy is another option available which acts by reducing production of glucocerebrosides by using inhibitor of glucosyl ceramide synthase.…”

Section: "Fig4 Chest X Ray Showing Patchy Pneumonitis"mentioning

confidence: 99%

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Gaucher Disease- A Rare Case Report From a Tertiary Care Hospital in Northern India

Yadav,

Sharma,

Grover

et al. 2023

PIJR

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Gaucher disease is a rare lysosomal storage disorder with very few case reports from India. We intend to publish one such rare case with the aim of highlighting the detailed diagnostic approach to make an early and correct diagnosis of such a rare disorder. A three and a half year female presented to pediatric department with progressive abdominal distension since nine months. On examination, she was found to have massive splenomegaly . Investigations revealed bicytopenia. All relevant investigations were done step by step but the cause of splenomegaly was not evident . Bone marrow aspirate clinched the diagnosis as it showed presence of characteristic Gaucher Cells. Further confirmation of the diagnosis was done by biochemical level of glucocerebrosidase enzyme which was found to be extremely low. Molecular genetic analysis was also found to be positive, confirming the diagnosis.Also, genetic mutation detected, according to our case phenotype was rare. A step wise comprehensive approach to cases presenting with cytopenias and splenomegaly is required in order not to miss such rare cases of storage disorders.

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“…É importante diferenciar de outras condições de armazenamento lisossômico e distúrbios hematológicos. A medição da ação da betaglicocerebrosidase nos leucócitos sanguíneos auxilia na suspeita de DG, mas a análise definitiva requer um estudo molecular complementar (VALDÉS-DÍAZ et al, 2022).…”

Section: Conclusãounclassified

Doença de Gaucher: uma abordagem diagnóstica, evolução clínica e revisão

Silva,

E Souza,

De Castro

et al. 2023

Braz. J. Hea. Rev.

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Introdução: A doença de Gaucher é uma doença metabólica hereditária causada por uma mutação no gene GBA1, resultando na deficiência da enzima beta-glicosidase e acúmulo de glicocerebrosídeo nos tecidos. Essa doença que é uma herança autossômica recessiva afeta órgãos como baço, fígado, medula óssea e sistema nervoso central. Apresentação do Caso: Jovem de 23 anos, sexo masculino, encaminhado ao serviço de clínica médica para avaliação de hepatoesplenomegalia e quadro de anemia. Relata dor em extremidades inferiores persistentes por um período de 5 anos e aumento do volume abdominal. Sem histórico de comorbidades ou uso regular de medicamentos. Discussão:Existem três fenótipos da doença com manifestações clínicas variadas: tipo I (não neuropático) é o mais comum, tipo II (neuropático agudo) é mais grave, com comprometimento neurológico agudo e prognóstico desfavorável e tipo III (neuropático crônico) que é menos grave. A incidência é estimada em 1 em 60.000 na população geral. Os principais sintomas incluem hepatoesplenomegalia, trombocitopenia, anemia e dores ósseas. Baseado na premissa de que a Doença de Gaucher possui difícil diagnóstico precoce devido ao quadro clínico semelhante com diferentes doenças, este trabalho tem por objetivo delimitar os sinais e sintomas da doença e seu grupo etário mais acometido com intuito de abranger um maior reconhecimento sobre essa condição rara facilitando o tratamento adequado desses pacientes. Conclusão: A análise dos artigos evidenciou que o diagnóstico é feito por meio de testes de atividade da enzima beta-glicosidase ácida ou detecção de células de Gaucher em tecidos e seu tratamento envolve a reposição enzimática específica, como o uso de alfataglicerase.

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Gaucher disease. Presentation of a clinical case and literature review

Cited by 3 publications

References 7 publications

Gaucher disease: A diagnostic approach, clinical evolution and review

Gaucher disease: A diagnostic approach, clinical evolution and review

Gaucher Disease- A Rare Case Report From a Tertiary Care Hospital in Northern India

Doença de Gaucher: uma abordagem diagnóstica, evolução clínica e revisão

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