Study of enzyme replacement therapy for Gaucher Disease: comparative analysis of clinical and laboratory parameters at diagnosis and after two, five and ten years of treatment

Souza, Ana Maria Almeida; Muniz, Thiago Pimentel; Brito, Rafael Maciel

doi:10.1016/j.bjhh.2014.05.005

Cited by 7 publications

(6 citation statements)

References 17 publications

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“…This data corroborates a study that evaluated the impact of enzyme therapy for patients with Gaucher disease in clinical and laboratory parameters after two, five and ten years of treatment, where 61.5% of the sample was female (8) . Similarly, the Gaucher Register of the International Collaborative Gaucher Group (ICGG) -a multicenter registry with demographic and clinical results, created in 1991 -showed that in Brazil, out of a total of 551 registered and accompanied patients, 58% were female, closely matching world data (53%) (9) .…”

Section: Discussionsupporting

confidence: 88%

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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Section: Discussionsupporting

confidence: 88%

Signs and symptoms in Gaucher Disease: priority nursing diagnoses

2018

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“…The duration of the treatment ranged from 0.17 to 20 years, with a mean of 6.07 (±6.37) years. This was implemented in line with the international recommendations 28,29. Adverse events from ERT were detected in 3.2% of our population.…”

Section: Discussionmentioning

confidence: 74%

Clinical Characteristics, Molecular Background, and Survival of Egyptian Patients With Gaucher Disease Over a 20-Year Follow-up

El‐Beshlawy¹,

Abdel-Azim²,

Abdelsalam³

et al. 2021

Journal of Pediatric Hematology/Oncology

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This study analyzes the general disease characteristics, impact of enzyme replacement therapy (ERT), and overall survival (OS) of 156 Egyptian patients with Gaucher disease (GD) enrolled on hormone replacement from 1998 to 2017. The mean age at diagnosis was 32.46 ± 12.68 months. Anemia was noted at diagnosis in 50%, thrombocytopenia in 30.7%, severe splenomegaly in 58.7%, severe hepatomegaly in 11.9%, and skeletal findings were detected in 24.3% of the patients. The most prevalent GD type was type 3 (54.5%). Twenty-two of type 3 patients had no neurological manifestations at diagnosis, and 12 developed variable central nervous system manifestations during follow-up. The most common neurological features were limited eye movements, oculomotor apraxia, and squint. Of the 60 patients for whom genotypes were obtained, homozygous L444P was the most common (n = 35/60, 58.3%). Treatment with ERT (imiglucerase) revealed significant improvements in blood indices, organ volumes, and growth parameters (P < 0.05). Ten (11.7%) type 3 patients did not develop any neurological manifestations under ERT over 20 years. Mortality was 16%, and the 20-year OS was 73.3%. We conclude that in Egypt, type 3 is the most prevalent phenotype of GD, and homozygous L444P is the predominant GBA genotype of GD. Early age at diagnosis and treatment with ERT over 20 years revealed significant improvements in disease manifestations, with an OS of 73.3%.

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“…La EG tipo 3 es de presentación más tardía y progresión más lenta (42). La mayoría de los pacientes llegan a la adultez, en promedio hasta la tercera década de la vida (34,52).…”

Section: Pronósticounclassified