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[PMID]:28464912
[Au] Autor:Muenzer J; Jones SA; Tylki-Szymanska A; Harmatz P; Mendelsohn NJ; Guffon N; Giugliani R; Burton BK; Scarpa M; Beck M; Jangelind Y; Hernberg-Stahl E; Larsen MP; Pulles T; Whiteman DAH
[Ad] Endereço:Department of Pediatrics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.
[Ti] Título:Ten years of the Hunter Outcome Survey (HOS): insights, achievements, and lessons learned from a global patient registry.
[So] Source:Orphanet J Rare Dis;12(1):82, 2017 May 02.
[Is] ISSN:1750-1172
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Mucopolysaccharidosis type II (MPS II; Hunter syndrome; OMIM 309900) is a rare lysosomal storage disease with progressive multisystem manifestations caused by deficient activity of the enzyme iduronate-2-sulfatase. Disease-specific treatment is available in the form of enzyme replacement therapy with intravenous idursulfase (Elaprase®, Shire). Since 2005, the Hunter Outcome Survey (HOS) has collected real-world, long-term data on the safety and effectiveness of this therapy, as well as the natural history of MPS II. Individuals with a confirmed diagnosis of MPS II who are untreated or who are receiving/have received treatment with idursulfase or bone marrow transplant can be enrolled in HOS. A broad range of disease- and treatment-related information is captured in the registry and, over the past decade, data from more than 1000 patients from 124 clinics in 29 countries have been collected. Evidence generated from HOS has helped to improve our understanding of disease progression in both treated and untreated patients and has extended findings from the formal clinical trials of idursulfase. As a long-term, global, observational registry, various challenges relating to data collection, entry, and analysis have been encountered. These have resulted in changes to the HOS database platform, and novel approaches to maximize the value of the information collected will also be needed in the future. The continued evolution of the registry should help to ensure that HOS provides further insights into the burden of the disease and patient care and management in the coming years.
[Mh] Termos MeSH primário: Terapia de Reposição de Enzimas
Iduronato Sulfatase/uso terapêutico
Mucopolissacaridose II/tratamento farmacológico
Sistema de Registros/estatística & dados numéricos
[Mh] Termos MeSH secundário: Bases de Dados Factuais
Terapia de Reposição de Enzimas/normas
Seres Humanos
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
EC 3.1.6.13 (Iduronate Sulfatase); EC 3.1.6.13 (idursulfase)
[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:170504
[St] Status:MEDLINE
[do] DOI:10.1186/s13023-017-0635-z


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[PMID]:28334757
[Au] Autor:Costa R; Urbani A; Salvalaio M; Bellesso S; Cieri D; Zancan I; Filocamo M; Bonaldo P; Szabò I; Tomanin R; Moro E
[Ad] Endereço:Department of Molecular Medicine.
[Ti] Título:Perturbations in cell signaling elicit early cardiac defects in mucopolysaccharidosis type II.
[So] Source:Hum Mol Genet;26(9):1643-1655, 2017 May 01.
[Is] ISSN:1460-2083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Morphogens release and activity can be negatively affected by an impaired glycosaminoglycans (GAGs) turnover and proteoglycans assembly in the extracellular matrix, leading to altered tissue morphogenesis. In this work, we show that loss of Iduronate-2-sulfatase (IDS) activity, affecting GAGs catabolism and responsible for a life-threatening valvulopathy in mucopolysaccharidosis type II (MPSII), triggers early Sonic Hedgehog (Shh) and Wnt/ß-catenin signaling defects, leading to aberrant heart development and atrioventricular valve formation in a zebrafish model. In addition, we consistently found impaired Shh signaling activity and cardiac electrophysiological abnormalities in IDS knockout mice at postnatal stages before any evident massive GAGs accumulation. These results suggest that IDS activity substantially affect cardiac morphogenesis through impaired Shh signaling and document an unexplored role of the enzyme in the fine-tuning of cell signaling pathways.
[Mh] Termos MeSH primário: Glicoproteínas/metabolismo
Mucopolissacaridose II/metabolismo
[Mh] Termos MeSH secundário: Animais
Modelos Animais de Doenças
Glicosaminoglicanos/metabolismo
Proteínas Hedgehog/metabolismo
Iduronato Sulfatase
Camundongos
Camundongos Knockout
Miocárdio/citologia
Miocárdio/metabolismo
Proteoglicanas/metabolismo
Via de Sinalização Wnt
Peixe-Zebra/metabolismo
Proteínas de Peixe-Zebra/metabolismo
beta Catenina
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Glycoproteins); 0 (Glycosaminoglycans); 0 (Hedgehog Proteins); 0 (IDS protein, human); 0 (Proteoglycans); 0 (Shha protein, zebrafish); 0 (Zebrafish Proteins); 0 (beta Catenin); EC 3.1.6.13 (Iduronate Sulfatase)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171017
[Lr] Data última revisão:
171017
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170324
[St] Status:MEDLINE
[do] DOI:10.1093/hmg/ddx069


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[PMID]:28277530
[Au] Autor:Sipp D; McCabe C; Rasko JE
[Ad] Endereço:RIKEN Center for Developmental Biology in Kobe, Japan, and visiting professor at Keio University School of Medicine and Global Research Institute, Tokyo.
[Ti] Título:Show drugs work before selling them.
[So] Source:Nature;543(7644):174-175, 2017 03 08.
[Is] ISSN:1476-4687
[Cp] País de publicação:England
[La] Idioma:eng
[Mh] Termos MeSH primário: Aprovação de Drogas/economia
Aprovação de Drogas/legislação & jurisprudência
Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/prevenção & controle
Segurança do Paciente/legislação & jurisprudência
Preparações Farmacêuticas/economia
United States Food and Drug Administration/legislação & jurisprudência
[Mh] Termos MeSH secundário: Alanina/efeitos adversos
Alanina/análogos & derivados
Azepinas/efeitos adversos
Criança
Ensaios Clínicos como Assunto/economia
Ensaios Clínicos como Assunto/ética
Ensaios Clínicos como Assunto/legislação & jurisprudência
Aprovação de Drogas/história
Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/economia
História do Século XX
História do Século XXI
Seres Humanos
Iduronato Sulfatase/uso terapêutico
Modelos Econômicos
Mucopolissacaridose II/tratamento farmacológico
Segurança do Paciente/economia
Segurança do Paciente/história
Preparações Farmacêuticas/normas
Quinolinas/efeitos adversos
Reprodutibilidade dos Testes
Talidomida/efeitos adversos
Talidomida/história
Estados Unidos
United States Food and Drug Administration/economia
United States Food and Drug Administration/história
[Pt] Tipo de publicação:HISTORICAL ARTICLE; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Azepines); 0 (N2-((2S)-2-(3,5-difluorophenyl)-2-hydroxyethanoyl)-N1-((7S)-5-methyl-6-oxo-6,7-dihydro-5H-dibenzo(b,d)azepin-7-yl)-L-alaninamide); 0 (Pharmaceutical Preparations); 0 (Quinolines); 4N4457MV2U (torcetrapib); 4Z8R6ORS6L (Thalidomide); EC 3.1.6.13 (Iduronate Sulfatase); EC 3.1.6.13 (idursulfase); OF5P57N2ZX (Alanine)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170718
[Lr] Data última revisão:
170718
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170310
[St] Status:MEDLINE
[do] DOI:10.1038/543174a


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[PMID]:28186595
[Au] Autor:Li Y; Mei S; Kong X; Zhao Z; Zhu X; Yang X; Qin Z; Wu H
[Ad] Endereço:Prenatal Diagnosis Center, The First Affiliated Hospital, Zhengzhou University, Zhengzhou, Henan 450052, China. kongxd@263.net.
[Ti] Título:[Analysis of IDS gene mutation in a family affected with mucopolysaccharidosis typeâ…¡].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;34(1):58-60, 2017 Feb 10.
[Is] ISSN:1003-9406
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To detect potential mutation of iduronate-2-sulfatase (IDS) gene in a family affected with mucopolysaccharidosis type â…¡ (MPS â…¡). METHODS: For the proband and his unaffected mother, the whole coding sequence of the IDS gene was analyzed with PCR and bidirectional Sanger sequencing. RESULTS: A novel splicing mutation, c.709-1G>A, was detected in the proband, for which his mother was heterozygous. CONCLUSION: The c.709-1G>A splicing mutation of the IDS gene is probably causative for the MSP â…¡ in the proband. Prenatal diagnosis for the mutation may avoid birth of further child affected with this disease.
[Mh] Termos MeSH primário: Predisposição Genética para Doença/genética
Glicoproteínas/genética
Iduronato Sulfatase/genética
Mucopolissacaridose II/genética
Mutação
[Mh] Termos MeSH secundário: Sequência de Bases
Criança
Análise Mutacional de DNA/métodos
Saúde da Família
Feminino
Glicoproteínas/metabolismo
Heterozigoto
Seres Humanos
Iduronato Sulfatase/metabolismo
Masculino
Mães
Mucopolissacaridose II/diagnóstico
Mucopolissacaridose II/enzimologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Glycoproteins); 0 (IDS protein, human); EC 3.1.6.13 (Iduronate Sulfatase)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170629
[Lr] Data última revisão:
170629
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170211
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1003-9406.2017.01.013


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[PMID]:27829684
[Au] Autor:Kim C; Seo J; Chung Y; Ji HJ; Lee J; Sohn J; Lee B; Jo EC
[Ad] Endereço:Protein Engineering Laboratory, MOGAM Institute for Biomedical Research, Yongin, Republic of Korea.
[Ti] Título:Comparative study of idursulfase beta and idursulfase in vitro and in vivo.
[So] Source:J Hum Genet;62(2):167-174, 2017 Feb.
[Is] ISSN:1435-232X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Hunter syndrome is an X-linked lysosomal storage disease caused by a deficiency in the enzyme iduronate-2-sulfatase (IDS), leading to the accumulation of glycosaminoglycans (GAGs). Two recombinant enzymes, idursulfase and idursulfase beta are currently available for enzyme replacement therapy for Hunter syndrome. These two enzymes exhibited some differences in various clinical parameters in a recent clinical trial. Regarding the similarities and differences of these enzymes, previous research has characterized their biochemical and physicochemical properties. We compared the in vitro and in vivo efficacy of the two enzymes on patient fibroblasts and mouse model. Two enzymes were taken up into the cell and degraded GAGs accumulated in fibroblasts. In vivo studies of two enzymes revealed similar organ distribution and decreased urinary GAGs excretion. Especially, idursulfase beta exhibited enhanced in vitro efficacy for the lower concentration of treatment, in vivo efficacy in the degradation of tissue GAGs and improvement of bones, and revealed lower anti-drug antibody formation. A biochemical analysis showed that both enzymes show largely a similar glycosylation pattern, but the several peaks were different and quantity of aggregates of idursulfase beta was lower.
[Mh] Termos MeSH primário: Terapia de Reposição de Enzimas/métodos
Iduronato Sulfatase/farmacologia
Iduronato Sulfatase/farmacocinética
Iduronato Sulfatase/uso terapêutico
Mucopolissacaridose II/tratamento farmacológico
[Mh] Termos MeSH secundário: Animais
Linhagem Celular
Glicoproteínas/genética
Glicosaminoglicanos/metabolismo
Seres Humanos
Camundongos
Camundongos Endogâmicos C57BL
Camundongos Knockout
Mucopolissacaridose II/genética
Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Glycoproteins); 0 (Glycosaminoglycans); 0 (IDS protein, human); EC 3.1.6.13 (Iduronate Sulfatase); EC 3.1.6.13 (idursulfase); EC 3.1.6.13 (idursulfase beta, mouse)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170524
[Lr] Data última revisão:
170524
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161111
[St] Status:MEDLINE
[do] DOI:10.1038/jhg.2016.133


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[PMID]:27764180
[Au] Autor:Chung JK; Brown E; Crooker B; Palmieri KJ; McCauley TG
[Ad] Endereço:Shire, Lexington, Massachusetts, United States of America.
[Ti] Título:Biodistribution of Idursulfase Formulated for Intrathecal Use (Idursulfase-IT) in Cynomolgus Monkeys after Intrathecal Lumbar Administration.
[So] Source:PLoS One;11(10):e0164765, 2016.
[Is] ISSN:1932-6203
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Enzyme replacement therapy with intravenous idursulfase (recombinant iduronate-2-sulfatase) is approved for the treatment of Hunter syndrome. Intravenous administration does not, however, treat the neurological manifestations, due to its low central nervous system bioavailability. Using intrathecal-lumbar administration, iduronate-2-sulfatase is delivered directly to the central nervous system. This study investigates the central nervous system biodistribution of intrathecal-lumbar administered iduronate-2-sulfatase in cynomolgus monkeys. Twelve monkeys were administered iduronate-2-sulfatase in one 30 mg intrathecal-lumbar injection. Brain, spinal cord, liver, and kidneys were collected for iduronate-2-sulfatase concentration (measured by an enzyme linked immunosorbent assay) and enzyme activity measurement (via a method utilizing 4-methylumbelliferyl-α-iduronate-2-sulfate) at 1, 2, 5, 12, 24, and 48 hours following administration. The tissue enzyme linked immunosorbent assay confirmed iduronate-2-sulfatase uptake to the brain, spinal cord, kidneys, and liver in a time-dependent manner. In spinal cord and brain, iduronate-2-sulfatase appeared as early as 1 hour following administration, and peak concentrations were observed at ~2 and ~5 hours. Iduronate-2-sulfatase appeared in liver and kidneys 1 hour post intrathecal-lumbar dose with peak concentrations between 5 and 24 hours. Liver iduronate-2-sulfatase concentration was approximately 10-fold higher than kidney. The iduronate-2-sulfatase localization and enzyme activity in the central nervous system, following intrathecal administration, demonstrates that intrathecal-lumbar treatment with iduronate-2-sulfatase may be considered for further investigation as a treatment for Hunter syndrome patients with neurocognitive impairment.
[Mh] Termos MeSH primário: Terapia de Reposição de Enzimas
Iduronato Sulfatase/administração & dosagem
Mucopolissacaridose II/tratamento farmacológico
[Mh] Termos MeSH secundário: Animais
Encéfalo/enzimologia
Avaliação Pré-Clínica de Medicamentos
Feminino
Seres Humanos
Iduronato Sulfatase/farmacocinética
Injeções Espinhais
Rim/enzimologia
Fígado/enzimologia
Macaca fascicularis
Masculino
Medula Espinal/enzimologia
Fatores de Tempo
Distribuição Tecidual
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.1.6.13 (Iduronate Sulfatase); EC 3.1.6.13 (idursulfase)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170605
[Lr] Data última revisão:
170605
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161021
[St] Status:MEDLINE
[do] DOI:10.1371/journal.pone.0164765


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[PMID]:27512952
[Au] Autor:Zalfa C; Verpelli C; D'Avanzo F; Tomanin R; Vicidomini C; Cajola L; Manara R; Sala C; Scarpa M; Vescovi AL; De Filippis L
[Ad] Endereço:Department of Biotechnology and Biosciences, University Milan Bicocca, Piazza della Scienza 2, Milano 20126, Italy.
[Ti] Título:Glial degeneration with oxidative damage drives neuronal demise in MPSII disease.
[So] Source:Cell Death Dis;7(8):e2331, 2016 Aug 11.
[Is] ISSN:2041-4889
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Mucopolysaccharidosis type II (MPSII) is a lysosomal storage disorder due to the deficit of the iduronate 2-sulfatase (IDS) enzyme, causing progressive neurodegeneration in patients. Neural stem cells (NSCs) derived from the IDS-ko mouse can recapitulate MPSII pathogenesis in vitro. In differentiating IDS-ko NSCs and in the aging IDS-ko mouse brain, glial degeneration precedes neuronal degeneration. Here we show that pure IDS-ko NSC-derived astrocytes are selectively able to drive neuronal degeneration when cocultured with healthy neurons. This phenotype suggests concurrent oxidative damage with metabolic dysfunction. Similar patterns were observed in murine IDS-ko animals and in human MPSII brains. Most importantly, the mutant phenotype of IDS-ko astrocytes was reversed by low oxygen conditions and treatment with vitamin E, which also reversed the toxic effect on cocultured neurons. Moreover, at very early stages of disease we detected in vivo the development of a neuroinflammatory background that precedes astroglial degeneration, thus suggesting a novel model of MPSII pathogenesis, with neuroinflammation preceding glial degeneration, which is finally followed by neuronal death. This hypothesis is also consistent with the progression of white matter abnormalities in MPSII patients. Our study represents a novel breakthrough in the elucidation of MPSII brain pathogenesis and suggests the antioxidant molecules as potential therapeutic tools to delay MPSII onset and progression.
[Mh] Termos MeSH primário: Mucopolissacaridose II/patologia
Neuroglia/patologia
Estresse Oxidativo
[Mh] Termos MeSH secundário: Adolescente
Animais
Antioxidantes/farmacologia
Astrócitos/efeitos dos fármacos
Astrócitos/metabolismo
Encéfalo/patologia
Morte Celular/efeitos dos fármacos
Células Cultivadas
Criança
Pré-Escolar
Técnicas de Cocultura
Feminino
Seres Humanos
Iduronato Sulfatase/metabolismo
Lactente
Inflamação/complicações
Inflamação/patologia
Masculino
Camundongos Endogâmicos C57BL
Mutação/genética
Degeneração Neural/complicações
Degeneração Neural/patologia
Células-Tronco Neurais/efeitos dos fármacos
Células-Tronco Neurais/metabolismo
Neuroglia/efeitos dos fármacos
Estresse Oxidativo/efeitos dos fármacos
Oxigênio/farmacologia
Fenótipo
Ratos
Vitamina E/farmacologia
Substância Branca/patologia
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Antioxidants); 1406-18-4 (Vitamin E); EC 3.1.6.13 (Iduronate Sulfatase); S88TT14065 (Oxygen)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171010
[Lr] Data última revisão:
171010
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160812
[St] Status:MEDLINE
[do] DOI:10.1038/cddis.2016.231


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[PMID]:27187040
[Au] Autor:Reboun M; Rybová J; Dobrovolný R; Vcelák J; Veselková T; Storkánová G; Musálková D; Hrebícek M; Ledvinová J; Magner M; Zeman J; Pesková K; Dvoráková L
[Ad] Endereço:Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Czech Republic.
[Ti] Título:X-Chromosome Inactivation Analysis in Different Cell Types and Induced Pluripotent Stem Cells Elucidates the Disease Mechanism in a Rare Case of Mucopolysaccharidosis Type II in a Female.
[So] Source:Folia Biol (Praha);62(2):82-9, 2016.
[Is] ISSN:0015-5500
[Cp] País de publicação:Czech Republic
[La] Idioma:eng
[Ab] Resumo:Mucopolysaccharidosis type II (MPS II) is an X-linked lysosomal storage disorder resulting from deficiency of iduronate-2-sulphatase activity. The disease manifests almost exclusively in males; only 16 symptomatic heterozygote girls have been reported so far. We describe the results of X-chromosome inactivation analysis in a 5-year-old girl with clinically severe disease and heterozygous mutation p.Arg468Gln in the IDS gene. X inactivation analysed at three X-chromosome loci showed extreme skewing (96/4 to 99/1) in two patient's cell types. This finding correlated with exclusive expression of the mutated allele. Induced pluripotent stem cells (iPSC) generated from the patient's peripheral blood demonstrated characteristic pluripotency markers, deficiency of enzyme activity, and mutation in the IDS gene. These cells were capable of differentiation into other cell types (cardiomyocytes, neurons). In MPS II iPSC clones, the X inactivation ratio remained highly skewed in culture conditions that led to partial X inactivation reset in Fabry disease iPSC clones. Our data, in accordance with the literature, suggest that extremely skewed X inactivation favouring the mutated allele is a crucial condition for manifestation of MPS II in females. This suggests that the X inactivation status and enzyme activity have a prognostic value and should be used to evaluate MPS II in females. For the first time, we show generation of iPSC from a symptomatic MPS II female patient that can serve as a cellular model for further research of the pathogenesis and treatment of this disease.
[Mh] Termos MeSH primário: Iduronato Sulfatase/genética
Células-Tronco Pluripotentes Induzidas
Mucopolissacaridose II/genética
Inativação do Cromossomo X
[Mh] Termos MeSH secundário: Células Cultivadas
Pré-Escolar
Feminino
Seres Humanos
Iduronato Sulfatase/metabolismo
Masculino
Mucopolissacaridose II/diagnóstico
Mucopolissacaridose II/enzimologia
Mutação
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
EC 3.1.6.13 (Iduronate Sulfatase)
[Em] Mês de entrada:1703
[Cu] Atualização por classe:170308
[Lr] Data última revisão:
170308
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160518
[St] Status:MEDLINE


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[PMID]:26897145
[Au] Autor:Narayanan DL; Srivastava P; Mandal K; Gambhir PS; Phadke SR
[Ad] Endereço:Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India. Correspondence to: Dr Kausik Mandal, Assistant Professor, Department of Medical Genetics, Sanjay Gandhi Post Graduate Institute of Medical Sciences, Lucknow, Uttar Pradesh, India. mandal.kausik@gmail.com.
[Ti] Título:Hunter Syndrome in Northern India: Clinical features and Mutation Spectrum.
[So] Source:Indian Pediatr;53(2):134-6, 2016 Feb.
[Is] ISSN:0974-7559
[Cp] País de publicação:India
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To study the clinical profile and mutation spectrum of Hunter syndrome. METHODS: Evaluation of 18 cases of Hunter syndrome from 17 families was done. Mutation analysis of Iduronate sulfatase (IDS) gene was done in 9 families, and mothers of four affected children with no family history. RESULTS: Joint contracture, hepatomegaly and radiological changes were present in all children. 6 (33%) children had normal cognitive function at presentation. Point mutations were identified in all the 9 families for whom mutation analysis was done. Among 4 mothers tested from families without any family history, 2 (50%) were found to be carriers. CONCLUSION: Accurate etiological diagnosis by mutation analysis of IDS gene is important in Hunter syndrome.
[Mh] Termos MeSH primário: Iduronato Sulfatase/genética
Mucopolissacaridose II/diagnóstico
Mucopolissacaridose II/genética
[Mh] Termos MeSH secundário: Criança
Pré-Escolar
Análise Mutacional de DNA
Seres Humanos
Índia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Nome de substância:
EC 3.1.6.13 (Iduronate Sulfatase)
[Em] Mês de entrada:1701
[Cu] Atualização por classe:170111
[Lr] Data última revisão:
170111
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160222
[St] Status:MEDLINE


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[PMID]:26845288
[Au] Autor:da Silva EM; Strufaldi MW; Andriolo RB; Silva LA
[Ad] Endereço:Emergency Medicine and Evidence Based Medicine, Universidade Federal de São Paulo, Rua Borges Lagoa 564 cj 64, Vl. Clementino, São Paulo, São Paulo, Brazil, 04038-000.
[Ti] Título:Enzyme replacement therapy with idursulfase for mucopolysaccharidosis type II (Hunter syndrome).
[So] Source:Cochrane Database Syst Rev;2:CD008185, 2016 Feb 05.
[Is] ISSN:1469-493X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: Mucopolysaccharidosis II, also known as Hunter syndrome, is a rare, X-linked disease caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase, which catalyses a step in the catabolism of glycosaminoglycans. The glycosaminoglycans accumulate within tissues affecting multiple organs and physiologic systems. The clinical manifestations include neurologic involvement, severe airways obstruction, skeletal deformities and cardiomyopathy. The disease has a variable age of onset and variable rate of progression. In those with severe disease, death usually occurs in the second decade of life, whereas those individuals with less severe disease may survive into adulthood. Enzyme replacement therapy with intravenous infusions of idursulfase has emerged as a new treatment for mucopolysaccharidosis type II. This is an update of a previously published version of this review. OBJECTIVES: To evaluate the effectiveness and safety of enzyme replacement therapy with idursulfase compared to other interventions, placebo or no intervention, for treating mucopolysaccharidosis type II. SEARCH METHODS: We searched the Cochrane Cystic Fibrosis and Genetic Disorders Group's Trials Register (date of last search 23 November 2015).We also searched Embase, PubMed and the Literature Latino-Americana e do Caribe em Ciências da Saúde (LILACS) (date of last search 28 November 2015). SELECTION CRITERIA: Randomised and quasi-randomised controlled trials of enzyme replacement therapy with idursulfase compared to no intervention, placebo or other options (e.g. behavioral strategies, transplantation). DATA COLLECTION AND ANALYSIS: Two authors independently screened the trials identified, appraised quality of papers and extracted data. MAIN RESULTS: One study (96 male participants) met the inclusion criteria, although the primary outcome of this review - z score for height and weight, was not assessed in the study. This trial was considered to be of overall good quality. Following 53 weeks of treatment, participants in the weekly idursulfase 0.5 mg/kg group demonstrated a significant improvement rate compared with placebo for the primary outcome: distance walked in six minutes on the basis of the sum of ranks of change from baseline, mean difference 37.00 (95% confidence interval 6.52 to 67.48). The every-other-week idursulfase 0.5 mg/kg group also showed an improvement, which was not significant compared with placebo, mean difference 23.00 (95% confidence interval -4.49 to 50.49). After 53 weeks, there was no statistical significance difference in per cent predicted forced vital capacity between the three groups and absolute forced vital capacity was significantly increased from baseline in the weekly dosing group compared to placebo, mean difference 0.16 (95% confidence interval CI 0.05 to 0.27). No difference was observed between the every-other-week idursulfase 0.5 mg/kg group and placebo.In addition, liver and spleen volumes and urine glycosaminoglycan excretion were significantly reduced from baseline by both idursulfase dosing regimens. Idursulfase was generally well tolerated, but infusion reactions did occur. Idursulfase antibodies were detected in 31.7% of participants at the end of the study and they were related to a smaller reduction in urine glycosaminoglycan levels. AUTHORS' CONCLUSIONS: The current evidence is limited. While the randomised clinical trial identified was considered to be of good quality, it failed to describe important outcomes. It has been demonstrated that enzyme replacement therapy with idursulfase is effective in relation to functional capacity (distance walked in six minutes and forced vital capacity), liver and spleen volumes and urine glycosaminoglycan excretion in people with mucopolysaccharidosis type II compared with placebo. There is no available evidence in the included study and in the literature on outcomes such as improvement in growth, sleep apnoea, cardiac function, quality of life and mortality. More studies are needed to obtain more information on the long-term effectiveness and safety of enzyme replacement therapy.
[Mh] Termos MeSH primário: Terapia de Reposição de Enzimas/métodos
Iduronato Sulfatase/administração & dosagem
Mucopolissacaridose II/tratamento farmacológico
Doenças Raras/tratamento farmacológico
[Mh] Termos MeSH secundário: Esquema de Medicação
Seres Humanos
Masculino
Ensaios Clínicos Controlados Aleatórios como Assunto
Doenças Raras/enzimologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T; REVIEW
[Nm] Nome de substância:
EC 3.1.6.13 (Iduronate Sulfatase); EC 3.1.6.13 (idursulfase)
[Em] Mês de entrada:1606
[Cu] Atualização por classe:160301
[Lr] Data última revisão:
160301
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160205
[St] Status:MEDLINE
[do] DOI:10.1002/14651858.CD008185.pub4



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