Manifestações esqueléticas da doença de gaucher

Mendonça, Vinicius França de; Paula, Maria T. M.; Fernandes, César Eduardo; Boasquevisque, Edson

doi:10.1590/s0100-39842001000300007

Cited by 6 publications

(14 citation statements)

References 8 publications

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“…This finding is not specific for Gaucher disease, and it can be found in hemolytic anemias, leukemia, hyperthyroidism, former consolidated fractures, and Albers-Schonberg disease. Involvement of the jaw, skull, hands and feet is (Mendonça et al, 2001). …”

Section: Methodsmentioning

confidence: 99%

Literature Review: Dental Aspects in Gaucher Disease

Santos¹,

Faria²,

Watanabe³

2018

Int. J. Odontostomat.

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Section: Methodsmentioning

confidence: 99%

Literature Review: Dental Aspects in Gaucher Disease

Santos¹,

Faria²,

Watanabe³

2018

Int. J. Odontostomat.

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“…Bone and joint pain, often associated with the pain crisis, can be debilitating and chronic. Radiographic findings indicate a certain degree of bone marrow infiltration and replacement by Gaucher cells, resulting in loss of bone trabeculation and decreased density, more common in the epiphysis and metaphysis of long bones (17) . A study carried out in 2012, aimed to highlight Gaucher disease, in order to improve patient care and quality of life, showed that in 80% of the sample there was confirmation of bone disease by radiographic and historical examination of bone pain (18) .…”

Section: Chart 1 (Concluded)mentioning

confidence: 99%

“…The neurological picture is severe, with multiple seizures, hypertonia, apnea and progressive mental retardation. The evolution is rapid, with death in the first two years of life, usually due to pulmonary involvement (17)(18)(19)(20)(21) . Type 3 -Patients with type 3 (chronic neuropathic form) are mostly children and adolescents, with impairment of brain, spleen, liver and bones.…”

Section: Chart 1 (Concluded)mentioning

confidence: 99%

“…The evolution of the neurological picture is variable, but less severe than that of type 2. Survival occurs until the second or third decade of life (17)(18)(19)(20)(21) . Considering the sample studied, the most prevalent signs and symptoms were: epilepsy (10.98%), mental retardation (8.79%) and hypertonia (8.79%), thereby identifying patients with types 2 and 3.…”

Section: Chart 1 (Concluded)mentioning

confidence: 99%

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Signs and symptoms in Gaucher Disease: priority nursing diagnoses

2018

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Objective: Identify the signs and symptoms of patients with Gaucher Disease, inferring possible priority nursing diagnoses. Method: Cross-sectional study, developed in a specialized laboratory, between 2013 and 2015. The sample (n = 91) comprised the records of patients with genetic diagnosis for Gaucher Disease. The study respected research norms. Results: Prevalence of female sex (57.1%), age at diagnosis between 0 and 10 years, and origin from the Southeast Region of Brazil were prevalent. Hematologic changes, bone pain, hepatomegaly, splenomegaly, and fatigue were the most recurrent signs and symptoms. The inferred diagnoses for the studied population were: Risk for bleeding; Fatigue; Chronic pain and Acute pain; Impaired physical mobility; Imbalanced nutrition: less than body requirements; and Risk for Developmental Delay. Conclusion: The establishment of Priority Nursing Diagnoses based on signs and symptoms makes it possible to achieve expected outcomes for each individual in the care context. Descriptors: Gaucher Disease; Cerebrosid Liposidosis Syndrome; Signs and Symptoms; Nursing Process; Nursing Diagnosis. RESUMO Objetivo: Identifi car os sinais e sintomas de pacientes com Doença de Gaucher, inferindo os possíveis diagnósticos de enfermagem prioritários. Método: Estudo transversal, desenvolvido em laboratório especializado, entre 2013 e 2015. A amostra (n=91) foi constituída dos registros de pacientes com diagnóstico genético para Doença de Gaucher. O estudo respeitou normas de pesquisa. Resultados: Foram prevalentes o sexo feminino (57,1%), faixa etária ao diagnóstico entre 0 e 10 anos e proveniência da Região Sudeste do Brasil. Alterações hematológicas, dor óssea, hepatomegalia, esplenomegalia, cansaço foram os sinais e sintomas mais recorrentes. Os diagnósticos inferidos para a população estudada foram: Risco de sangramento; Fadiga; Dor crônica e Dor aguda; Mobilidade física prejudicada; Nutrição desequilibrada: menos do que as necessidades corporais; e Risco de Desenvolvimento atrasado. Conclusão: O estabelecimento dos Diagnósticos de Enfermagem prioritários a partir dos sinais e sintomas possibilita alcançar resultados esperados a cada indivíduo no contexto do cuidado. Descritores: Doença de Gaucher; Síndrome de Liposidose por Cerebrosídeos; Sinais e Sintomas; Processo de Enfermagem; Diagnóstico de Enfermagem. RESUMENObjetivo: Identifi car las señales y los síntomas de pacientes con Enfermedad de Gaucher, infi riendo los posibles diagnósticos prioritarios de enfermería. Método: Estudio transversal, desarrollado entre 2013 y 2015 en un laboratorio especializado. La muestra (n=91) estaba constituida por los registros de pacientes con diagnóstico genético de la Enfermedad de Gaucher. El estudio respetó las normas de la investigación. Resultados: Prevaleció el sexo femenino (57,1%), con franja de edad entre 0 y 10 años y procedencia de la Región Sureste de Brasil. Las alteraciones hematológicas, el dolor óseo, la hepatomegalia, la esplenomegalia y el cansancio fueron las señales y los síntom...

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“…[28][29][30][31][32][33][34][35][36] The prevalence values reported in these articles are presented in Table 1, with registry and non-registry cohorts reported separately.…”

Section: Review Of the Literaturementioning

confidence: 99%

Doença De Gaucher Tipo 1 No Esqueleto: Revisão Da América Latina

2016

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Gaucher disease (GD) is the most prevalent lysosomal storage disease, and is characterized by the accumulation of glucosylceramide and glucosylsphingosine in tissues throughout the body. With the advent of enzyme replacement therapy, the prognosis for patients with GD has dramatically improved. Still, the skeletal manifestations associated with GD respond slowly to enzyme replacement therapy and are the most significant contributor of disease related patient morbidity. This review of bone manifestations in GD presents the most recent theories on its pathophysiology, and gives a systematic review of studies with Latin American patients that report the frequency of bone manifestations and the effects of enzyme replacement therapy on their treatment. We conclude by emphasizing the importance of early identification and proper management at appropriate dosage levels of enzyme replacement therapy to reduce the morbidity caused by GD.Keywords: Gaucher disease; Skeleton; Prevalence; Latin America. RESUMO A doença de Gaucher (DG) é a doença de depósito lisossômico mais prevalente, que se caracteriza pelo acúmulo de glicosilceramida e glucosilesfingosina em todos os tecidos do corpo. Com o advento da terapia de reposição de enzimas, o prognóstico dos pacientes com DG melhorou acentuadamente. Ainda assim, as manifestações esqueléticas associadas à DG respondem lentamente à terapia de reposição de enzimas e são as que contribuem de forma mais significativa para a morbidade do paciente. Esta revisão das manifestações ósseas da DG apresenta as mais recentes teorias sobre a sua fisiopatologia e uma revisão sistemática de estudos com pacientes latino-americanos que relataram a frequência das manifestações ósseas e os efeitos da terapia de reposição de enzimas

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Manifestações esqueléticas da doença de gaucher

Cited by 6 publications

References 8 publications

Literature Review: Dental Aspects in Gaucher Disease

Literature Review: Dental Aspects in Gaucher Disease

Signs and symptoms in Gaucher Disease: priority nursing diagnoses

Doença De Gaucher Tipo 1 No Esqueleto: Revisão Da América Latina

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