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[PMID]:28468677
[Au] Autor:Andrade-Campos M; Alfonso P; Irun P; Armstrong J; Calvo C; Dalmau J; Domingo MR; Barbera JL; Cano H; Fernandez-Galán MA; Franco R; Gracia I; Gracia-Antequera M; Ibañez A; Lendinez F; Madruga M; Martin-Hernández E; O'Callaghan MDM; Del Soto AP; Del Prado YR; Sancho-Val I; Sanjurjo P; Pocovi M; Giraldo P
[Ad] Endereço:Haematology Department, Miguel Servet University Hospital, Zaragoza, Spain.
[Ti] Título:Diagnosis features of pediatric Gaucher disease patients in the era of enzymatic therapy, a national-base study from the Spanish Registry of Gaucher Disease.
[So] Source:Orphanet J Rare Dis;12(1):84, 2017 May 03.
[Is] ISSN:1750-1172
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: The enzymatic replacement therapy (ERT) availability for Gaucher disease (GD) has changed the landscape of the disease, several countries have screening programs. These actions have promoted the early diagnosis and avoided many complications in pediatric patients. In Spain ERT has been available since 1993 and 386 patients have been included in the Spanish Registry of Gaucher Disease (SpRGD). The aim of this study is to analyze the impact of ERT on the characteristics at time of diagnosis and initial complications in pediatric Gaucher disease patients. AIM: To analyze the impact of ERT on the characteristics at time of diagnosis and initial complications in pediatric Gaucher disease patients. METHODS: A review of data in SpRGD from patients' diagnosed before 18 years old was performed. The cohort was split according the year of diagnosis (≤1994, cohort A; ≥1995, cohort B). RESULTS: A total of 98 pediatric patients were included, GD1: 80, GD3: 18; mean age: 7.2 (0.17-16.5) years, 58 (59.2%) males and 40 (40.8%) females. Forty-five were diagnosed ≤ 1994 and 53 ≥ 1995. Genotype: N370S/N370S: 2 (2.0%), N370S/L444P: 27 (27.5%), N370S/other: 47 (48%), L444P/L444P: 7 (7.1%), L444P/D409H: 2 (2.0%), L444P/other: 3 (6.2%), other/other: 10 (10.2%). The mean age at diagnosis was earlier in patients diagnosed after 1995 (p < 0.001) and different between the subtypes, GD1: 8.2 (0.2-16.5) years and GD3: 2.8 (0.17-10.2) years (p < 0.001). There were more severe patients in the group diagnosed before 1994 (p = 0.045) carrying L444P (2), D409H (2), G377S (1), G195W (1) or the recombinant mutation. The patients' diagnosed ≤1994 showed worse cytopenias, higher chance of bone vascular complications at diagnosis and previous spleen removal. The patients started ERT at a median time after diagnosis of 5.2 years [cohort A] and 1.6 years [cohort B] (p < 0.001). CONCLUSIONS: The early diagnosis of Gaucher disease in the era of ERT availability has permitted to reduce the incidence of severe and irreversible initial complication in pediatric patients, and this has permitted better development of these patients. This is the largest pediatric cohort from a national registry.
[Mh] Termos MeSH primário: Terapia de Reposição de Enzimas
Doença de Gaucher/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Criança
Pré-Escolar
Terapia de Reposição de Enzimas/estatística & dados numéricos
Feminino
Doença de Gaucher/tratamento farmacológico
Doença de Gaucher/epidemiologia
Seres Humanos
Lactente
Masculino
Sistema de Registros
Espanha/epidemiologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1802
[Cu] Atualização por classe:180228
[Lr] Data última revisão:
180228
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170505
[St] Status:MEDLINE
[do] DOI:10.1186/s13023-017-0627-z


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[PMID]:29227082
[Au] Autor:Olkhovych NV
[Ti] Título:Chitotriosidase activity as additional biomarker in the diagnosis of lysosomal storage diseases.
[So] Source:Ukr Biochem J;88(1):69-78, 2016 Jan-Feb.
[Is] ISSN:2409-4943
[Cp] País de publicação:Ukraine
[La] Idioma:eng
[Ab] Resumo:To date, several genetic variants that lead to a deficiency of chitotriosidase activity have been described. The duplication of 24 bp (dup24bp) in exon 10 of the CHIT1 gene, which causes a complete loss of enzymatic activity of the gene product, is the most common among the European population. The aim of the study was to evaluate the possibility of using chitotriosidase activity as an additional biomarker in diagnosis of lysosomal storage diseases (LSDs) in Ukraine, to determine this parameter in blood plasma of the patients with various lysosomal diseases and to assess the effect of the presence of dup24bp in the CHIT1 gene on this parameter. It has been shown that chitotriosidase activity in blood plasma is a convenient additional biochemical marker in the diagnosis of some LSDs, namely Gaucher disease, Niemann-Pick disease A, B, C and GM1-gangliosidosis. Reference ranges of the normal chitotriosidase activity were determined in blood plasma of Ukrainian population and found to be 8.0-53.1 nmol 4-methylumbelliferone/h·ml of plasma. The total allele frequency of the dup24bp in the CHIT1 gene in Ukrainian population was determined, which amounted to 0.26 (323/1244) that is higher than in European population. It was indicated that moleculargenetic screening of dup24bp in the CHIT1 gene is a necessary stage in a protocol for the laboratory diagnosis of Gaucher disease, Niemann-Pick disease A, B, C as well as GM1-gangliosidosis to avoid incorrect diagnosis.
[Mh] Termos MeSH primário: Gangliosidose GM1/genética
Doença de Gaucher/genética
Frequência do Gene
Hexosaminidases/genética
Doenças de Niemann-Pick/genética
[Mh] Termos MeSH secundário: Adulto
Alelos
Biomarcadores/metabolismo
Estudos de Casos e Controles
Éxons
Feminino
Gangliosidose GM1/classificação
Gangliosidose GM1/diagnóstico
Gangliosidose GM1/patologia
Doença de Gaucher/diagnóstico
Doença de Gaucher/patologia
Duplicação Gênica
Expressão Gênica
Testes Genéticos
Hexosaminidases/sangue
Hexosaminidases/deficiência
Seres Humanos
Himecromona/sangue
Masculino
Doenças de Niemann-Pick/classificação
Doenças de Niemann-Pick/diagnóstico
Doenças de Niemann-Pick/patologia
Ucrânia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Biomarkers); 3T5NG4Q468 (Hymecromone); EC 3.2.1.- (Hexosaminidases); EC 3.2.1.- (chitotriosidase)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180116
[Lr] Data última revisão:
180116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171212
[St] Status:MEDLINE
[do] DOI:10.15407/ubj88.01.069


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[PMID]:28450571
[Au] Autor:Weinreb NJ
[Ad] Endereço:UNIVERSITY OF MIAMI.
[Ti] Título:Encore! Oral therapy for type 1 Gaucher disease.
[So] Source:Blood;129(17):2337-2338, 2017 04 27.
[Is] ISSN:1528-0020
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Doença de Gaucher
Glucosilceramidase
[Mh] Termos MeSH secundário: Terapia de Reposição de Enzimas
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; COMMENT
[Nm] Nome de substância:
EC 3.2.1.45 (Glucosylceramidase)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180116
[Lr] Data última revisão:
180116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170429
[St] Status:MEDLINE
[do] DOI:10.1182/blood-2017-02-769034


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[PMID]:28453301
[Au] Autor:Najarian DR; Hilton K; McCauley T; Qiu Y
[Ad] Endereço:Bioanalytical & Biomarker Development, 300 Shire Way, Lexington, MA 02421, USA.
[Ti] Título:A comparison study of bioanalytical methods for detection and characterization of anti-velaglucerase alfa antibodies.
[So] Source:Bioanalysis;9(10):775-786, 2017 May.
[Is] ISSN:1757-6199
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:AIM: To provide more efficient and timely immunogenicity testing service to support routine patient care, the original complex testing algorithm for evaluation of anti-velaglucerase alfa antibodies has been simplified and individual methods (screen, confirm, titer, neutralizing antibody [NAb] and IgE) have been redeveloped/optimized and validated. RESULTS: To compare the performance of different methods, 50 velaglucerase alfa-treated patient samples were analyzed using both old and new methods for the presence of antidrug antibodies (ADAs) and 31 ADA-positive samples were analyzed for neutralizing capacity. The ADA and NAb statuses are almost identical from both methods and both ADA and NAb titer results are highly correlated with a Spearman's correlation of 0.96 and 0.86, respectively. CONCLUSION: The original and new testing methods can be considered interchangeable for the measurement of total and neutralizing anti-velaglucerase alfa antibodies.
[Mh] Termos MeSH primário: Anticorpos Neutralizantes/sangue
Anticorpos Neutralizantes/imunologia
Análise Química do Sangue/métodos
Glucosilceramidase/imunologia
[Mh] Termos MeSH secundário: Doença de Gaucher/tratamento farmacológico
Doença de Gaucher/enzimologia
Glucosilceramidase/uso terapêutico
Seres Humanos
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antibodies, Neutralizing); EC 3.2.1.45 (Glucosylceramidase); EC 3.2.1.45 (Velaglucerase alfa, human)
[Em] Mês de entrada:1712
[Cu] Atualização por classe:171225
[Lr] Data última revisão:
171225
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170429
[St] Status:MEDLINE
[do] DOI:10.4155/bio-2016-0274


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[PMID]:28857617
[Au] Autor:Arenz C
[Ad] Endereço:Institute for Chemistry, Humboldt Universität zu Berlin, Brook-Taylor-Str. 2, 12489 Berlin, Germany.
[Ti] Título:Recent advances and novel treatments for sphingolipidoses.
[So] Source:Future Med Chem;9(14):1685-1698, 2017 Sep.
[Is] ISSN:1756-8927
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Sphingolipidoses are genetically inherited diseases in which genetic mutations lead to functional deficiencies in the enzymes needed for lysosomal degradation of sphingolipid substrates. As a consequence, nondegradable lipids enrich in the lysosomes and lead to fatal pathological phenotypes in affected individuals. In this review, different drug-based treatment strategies including enzyme replacement therapy and substrate reduction therapy are discussed. A special focus is on the concept of pharmacological chaperones, one of which recently acquired clinical approval within the EU. On the basis of the different limitations for each approach, possible future directions of research are discussed.
[Mh] Termos MeSH primário: Enzimas/uso terapêutico
Esfingolipidoses/tratamento farmacológico
[Mh] Termos MeSH secundário: Terapia de Reposição de Enzimas
Enzimas/genética
Enzimas/metabolismo
Doença de Fabry/tratamento farmacológico
Doença de Gaucher/tratamento farmacológico
Glucosilceramidase/genética
Glucosilceramidase/metabolismo
Glucosilceramidase/uso terapêutico
Seres Humanos
Lisossomos/metabolismo
Proteínas Recombinantes/biossíntese
Proteínas Recombinantes/isolamento & purificação
Proteínas Recombinantes/uso terapêutico
Esfingolipidoses/genética
Esfingolipidoses/patologia
Esfingolipídeos/metabolismo
alfa-Galactosidase/genética
alfa-Galactosidase/metabolismo
alfa-Galactosidase/uso terapêutico
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Enzymes); 0 (Recombinant Proteins); 0 (Sphingolipids); EC 3.2.1.22 (alpha-Galactosidase); EC 3.2.1.45 (Glucosylceramidase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171025
[Lr] Data última revisão:
171025
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170901
[St] Status:MEDLINE
[do] DOI:10.4155/fmc-2017-0065


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[PMID]:28762527
[Au] Autor:Mistry PK; Lukina E; Ben Turkia H; Shankar SP; Baris H; Ghosn M; Mehta A; Packman S; Pastores G; Petakov M; Assouline S; Balwani M; Danda S; Hadjiev E; Ortega A; Gaemers SJM; Tayag R; Peterschmitt MJ
[Ad] Endereço:Department of Internal Medicine and Pediatrics, Yale University School of Medicine, New Haven, CT, USA.
[Ti] Título:Outcomes after 18 months of eliglustat therapy in treatment-naïve adults with Gaucher disease type 1: The phase 3 ENGAGE trial.
[So] Source:Am J Hematol;92(11):1170-1176, 2017 Nov.
[Is] ISSN:1096-8652
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Eliglustat, an oral substrate reduction therapy, is a first-line treatment for adults with Gaucher disease type 1 (GD1) who are poor, intermediate, or extensive CYP2D6 metabolizers (>90% of patients). In the primary analysis of the Phase 3 ENGAGE trial (NCT00891202), eliglustat treatment for 9 months resulted in significant reductions in spleen and liver volumes and increases in hemoglobin concentration and platelet count compared with placebo. We report 18-month outcomes of patients who entered the trial extension period, in which all patients received eliglustat. Of 40 trial patients, 39 entered the extension period, and 38 completed 18 months. Absolute values and percent change over time were determined for spleen and liver volume, hemoglobin concentration, platelet count, bone mineral density, bone marrow burden, and Gaucher disease biomarkers. For patients randomized to eliglustat in the double-blind period, continuing treatment with eliglustat for 9 more months resulted in incremental improvement of all disease parameters. For patients randomized to placebo in the double-blind period, eliglustat treatment during the 9-month, open-label period resulted in significant decrease of spleen and liver volumes and significant increase of hemoglobin and platelets, with a similar rate of change to patients who had received eliglustat in the double-blind period. Eliglustat treatment was also associated with improvement in bone marrow burden score, bone mineral density, and established biomarkers of Gaucher disease, including reduction of the bioactive lipid, glucosylsphingosine. These findings underscore the efficacy of eliglustat in treatment-naïve patients. Eliglustat was well-tolerated, and there were no new safety concerns with longer-term exposure.
[Mh] Termos MeSH primário: Inibidores Enzimáticos/uso terapêutico
Terapia de Reposição de Enzimas
Doença de Gaucher/tratamento farmacológico
Pirrolidinas/uso terapêutico
[Mh] Termos MeSH secundário: Inibidores Enzimáticos/administração & dosagem
Inibidores Enzimáticos/efeitos adversos
Seguimentos
Doença de Gaucher/diagnóstico
Doença de Gaucher/enzimologia
Glucosilceramidase/antagonistas & inibidores
Seres Humanos
Fígado/patologia
Tamanho do Órgão
Pirrolidinas/administração & dosagem
Pirrolidinas/efeitos adversos
Baço/patologia
Resultado do Tratamento
[Pt] Tipo de publicação:CLINICAL TRIAL, PHASE III; JOURNAL ARTICLE; RANDOMIZED CONTROLLED TRIAL
[Nm] Nome de substância:
0 (Enzyme Inhibitors); 0 (Pyrrolidines); DR40J4WA67 (eliglustat); EC 3.2.1.45 (Glucosylceramidase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171103
[Lr] Data última revisão:
171103
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170802
[St] Status:MEDLINE
[do] DOI:10.1002/ajh.24877


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[PMID]:28617219
[Au] Autor:Lee YH; Choi H; Park S; Lee B; Yi GS
[Ad] Endereço:Department of Bio and Brain Engineering, Korea Advanced Institute of Science and Technology (KAIST), 291 Daehak-ro, Yuseong-gu, Daejeon, 34141, South Korea.
[Ti] Título:Drug repositioning for enzyme modulator based on human metabolite-likeness.
[So] Source:BMC Bioinformatics;18(Suppl 7):226, 2017 May 31.
[Is] ISSN:1471-2105
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Recently, the metabolite-likeness of the drug space has emerged and has opened a new possibility for exploring human metabolite-like candidates in drug discovery. However, the applicability of metabolite-likeness in drug discovery has been largely unexplored. Moreover, there are no reports on its applications for the repositioning of drugs to possible enzyme modulators, although enzyme-drug relations could be directly inferred from the similarity relationships between enzyme's metabolites and drugs. METHODS: We constructed a drug-metabolite structural similarity matrix, which contains 1,861 FDA-approved drugs and 1,110 human intermediary metabolites scored with the Tanimoto similarity. To verify the metabolite-likeness measure for drug repositioning, we analyzed 17 known antimetabolite drugs that resemble the innate metabolites of their eleven target enzymes as the gold standard positives. Highly scored drugs were selected as possible modulators of enzymes for their corresponding metabolites. Then, we assessed the performance of metabolite-likeness with a receiver operating characteristic analysis and compared it with other drug-target prediction methods. We set the similarity threshold for drug repositioning candidates of new enzyme modulators based on maximization of the Youden's index. We also carried out literature surveys for supporting the drug repositioning results based on the metabolite-likeness. RESULTS: In this paper, we applied metabolite-likeness to repurpose FDA-approved drugs to disease-associated enzyme modulators that resemble human innate metabolites. All antimetabolite drugs were mapped with their known 11 target enzymes with statistically significant similarity values to the corresponding metabolites. The comparison with other drug-target prediction methods showed the higher performance of metabolite-likeness for predicting enzyme modulators. After that, the drugs scored higher than similarity score of 0.654 were selected as possible modulators of enzymes for their corresponding metabolites. In addition, we showed that drug repositioning results of 10 enzymes were concordant with the literature evidence. CONCLUSIONS: This study introduced a method to predict the repositioning of known drugs to possible modulators of disease associated enzymes using human metabolite-likeness. We demonstrated that this approach works correctly with known antimetabolite drugs and showed that the proposed method has better performance compared to other drug target prediction methods in terms of enzyme modulators prediction. This study as a proof-of-concept showed how to apply metabolite-likeness to drug repositioning as well as potential in further expansion as we acquire more disease associated metabolite-target protein relations.
[Mh] Termos MeSH primário: Reposicionamento de Medicamentos
Enzimas/metabolismo
[Mh] Termos MeSH secundário: Antimetabólitos/metabolismo
Área Sob a Curva
Bases de Dados Factuais
Enzimas/química
Doença de Gaucher/tratamento farmacológico
Doença de Gaucher/enzimologia
Doença de Gaucher/patologia
Glucosilceramidase/uso terapêutico
Seres Humanos
Curva ROC
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antimetabolites); 0 (Enzymes); EC 3.2.1.45 (Glucosylceramidase)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171102
[Lr] Data última revisão:
171102
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170616
[St] Status:MEDLINE
[do] DOI:10.1186/s12859-017-1637-5


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[PMID]:28569047
[Au] Autor:Mistry PK; Batista JL; Andersson HC; Balwani M; Burrow TA; Charrow J; Kaplan P; Khan A; Kishnani PS; Kolodny EH; Rosenbloom B; Scott CR; Weinreb N
[Ad] Endereço:Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut.
[Ti] Título:Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.
[So] Source:Am J Hematol;92(9):929-939, 2017 Sep.
[Is] ISSN:1096-8652
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:This study tests the hypothesis that the prevalence of severe clinical manifestations in Gaucher disease type 1 (GD1) patients at the time of treatment initiation has changed since alglucerase/imiglucerase enzyme replacement therapy (ERT) was approved in the United States (US) in 1991. US alglucerase/imiglucerase-treated GD1 patients from the International Collaborative Gaucher Group Gaucher Registry clinicaltrials.gov NCT00358943 were stratified by age at ERT initiation (<18, 18 to <50, ≥50 years), era of ERT initiation (1991-1995, 1996-2000, 2001-2005, 2006-2009), and splenectomy status pre-ERT. Prevalence of splenectomy decreased dramatically across the eras among all age groups. Bone manifestations were more prevalent in splenectomized patients than non-splenectomized patients in all age groups. Prevalence of bone manifestations differed across eras in certain age groups: non-splenectomized patients had a lower prevalence of ischemic bone events (pediatric patients) and bone crisis (pediatric patients and adults 18 to <50 years) in later eras; splenectomized adult (18 to <50 years) patients had a lower prevalence of ischemic bone events and bone crisis in later eras. Over two decades after the introduction of ERT, the prevalence of splenectomy and associated skeletal complications has declined dramatically. Concomitantly, the interval between diagnosis and initiation of ERT has decreased, most strikingly in pediatric patients who have the most severe disease. Together, these findings suggest that since the introduction of alglucerase/imiglucerase ERT, optimal standard of care has become established in the US to prevent destructive complications of GD1.
[Mh] Termos MeSH primário: Terapia de Reposição de Enzimas
Doença de Gaucher/tratamento farmacológico
Glucosilceramidase/uso terapêutico
[Mh] Termos MeSH secundário: Adolescente
Adulto
Feminino
Seguimentos
Seres Humanos
Masculino
Meia-Idade
Prevalência
Sistema de Registros
Esplenectomia
[Pt] Tipo de publicação:CLINICAL TRIAL; JOURNAL ARTICLE; MULTICENTER STUDY
[Nm] Nome de substância:
27T56C7KK0 (alglucerase); EC 3.2.1.45 (Glucosylceramidase); Q6U6J48BWY (imiglucerase)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:171003
[Lr] Data última revisão:
171003
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170602
[St] Status:MEDLINE
[do] DOI:10.1002/ajh.24801


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[PMID]:28506293
[Au] Autor:Kim YM; Shin DH; Park SB; Cheon CK; Yoo HW
[Ad] Endereço:Department of Pediatrics, College of Medicine, Pusan National University Children's Hospital, Yangsan, Korea.
[Ti] Título:Case report of unexpected gastrointestinal involvement in type 1 Gaucher disease: comparison of eliglustat tartrate treatment and enzyme replacement therapy.
[So] Source:BMC Med Genet;18(1):55, 2017 May 15.
[Is] ISSN:1471-2350
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Gastrointestinal involvement in Gaucher disease is very rare, and appears to be unresponsive to enzyme replacement therapy (ERT). CASE PRESENTATION: Here, we describe identical twin, splenectomized, non-neuronopathic Gaucher patients on long-term ERT for 9 years, who complained of epigastric discomfort due to Gaucher cell infiltration of the gastroduodenal mucosa. Rare compound heterozygous mutations (p.Arg48Trp and p.Arg257Gln) of the GBA gene were found in both. Improvement in the gastroduodenal infiltration and reduced chitotriosidase levels were observed in one who switched to eliglustat tartrate for 1 year, whereas the other one who maintained ERT showed no improvement of chitotriosidase level and persistent duodenal lesions. CONCLUSION: This shows that eliglustat might be an effective treatment for Gaucher disease patients having lesions resistant to ERT.
[Mh] Termos MeSH primário: Duodeno/patologia
Terapia de Reposição de Enzimas/métodos
Doença de Gaucher/tratamento farmacológico
Pirrolidinas/uso terapêutico
[Mh] Termos MeSH secundário: Adulto
Criança
Inibidores Enzimáticos/uso terapêutico
Doença de Gaucher/genética
Hexosaminidases/metabolismo
Seres Humanos
Lactente
Masculino
Resultado do Tratamento
Gêmeos Monozigóticos
beta-Glucosidase/genética
[Pt] Tipo de publicação:CASE REPORTS; COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Enzyme Inhibitors); 0 (Pyrrolidines); DR40J4WA67 (eliglustat); EC 3.2.1.- (Hexosaminidases); EC 3.2.1.- (chitotriosidase); EC 3.2.1.21 (beta-Glucosidase)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170803
[Lr] Data última revisão:
170803
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170517
[St] Status:MEDLINE
[do] DOI:10.1186/s12881-017-0403-x


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[PMID]:28286087
[Au] Autor:Kawasaki H; Suzuki T; Ito K; Takahara T; Goto-Inoue N; Setou M; Sakata K; Ishida N
[Ad] Endereço:Foundation for Advancement of International Science, 24-16, Kasuga, 3-chome, Tsukuba, Ibaraki 305-0821, Japan; Ishida Group of Clock Gene, National Institute of Advanced Industrial Science and Technology, Tsukuba, Ibaraki 305-8566, Japan. Electronic address: kawasaki@fais.or.jp.
[Ti] Título:Minos-insertion mutant of the Drosophila GBA gene homologue showed abnormal phenotypes of climbing ability, sleep and life span with accumulation of hydroxy-glucocerebroside.
[So] Source:Gene;614:49-55, 2017 May 30.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:Gaucher's disease in humans is considered a deficiency of glucocerebrosidase (GlcCerase) that result in the accumulation of its substrate, glucocerebroside (GlcCer). Although mouse models of Gaucher's disease have been reported from several laboratories, these models are limited due to the perinatal lethality of GlcCerase gene. Here, we examined phenotypes of Drosophila melanogaster homologues genes of the human Gaucher's disease gene by using Minos insertion. One of two Minos insertion mutants to unknown function gene (CG31414) accumulates the hydroxy-GlcCer in whole body of Drosophila melanogaster. This mutant showed abnormal phenotypes of climbing ability and sleep, and short lifespan. These abnormal phenotypes are very similar to that of Gaucher's disease in human. In contrast, another Minos insertion mutant (CG31148) and its RNAi line did not show such severe phenotype as observed in CG31414 gene mutation. The data suggests that Drosophila CG31414 gene mutation might be useful for unraveling the molecular mechanism of Gaucher's disease.
[Mh] Termos MeSH primário: Glucosilceramidase/genética
Glucosilceramidas/metabolismo
Longevidade/genética
Atividade Motora/genética
Mutação
Sono/genética
[Mh] Termos MeSH secundário: Elementos de DNA Transponíveis/genética
Proteínas de Drosophila/genética
Proteínas de Drosophila/metabolismo
Doença de Gaucher/genética
Doença de Gaucher/metabolismo
Regulação Enzimológica da Expressão Gênica
Glucosilceramidase/metabolismo
Seres Humanos
Isoenzimas/genética
Isoenzimas/metabolismo
Mutagênese Insercional
Fenótipo
Interferência de RNA
Reação em Cadeia da Polimerase Via Transcriptase Reversa
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (DNA Transposable Elements); 0 (Drosophila Proteins); 0 (Glucosylceramides); 0 (Isoenzymes); EC 3.2.1.45 (Glucosylceramidase)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:170418
[Lr] Data última revisão:
170418
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170314
[St] Status:MEDLINE



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