Impact of ERT and follow-up of 17 patients from the same family with a mild form of MPS II

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dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP
dc.contributor.authorSTEPHAN, Bruno de Oliveira
dc.contributor.authorQUAIO, Caio Robledo
dc.contributor.authorSPOLADOR, Gustavo Marquezani
dc.contributor.authorPAULA, Ana Carolina de
dc.contributor.authorCURIATI, Marco Antonio
dc.contributor.authorMARTINS, Ana Maria
dc.contributor.authorLEAL, Gabriela Nunes
dc.contributor.authorTENORIO, Artur
dc.contributor.authorFINZI, Simone
dc.contributor.authorCHIMELO, Flavia Teixeira
dc.contributor.authorMATAS, Carla Gentile
dc.contributor.authorHONJO, Rachel Sayuri
dc.contributor.authorBERTOLA, Debora Romeo
dc.contributor.authorKIM, Chong Ae
dc.date.accessioned2022-10-26T14:22:31Z
dc.date.available2022-10-26T14:22:31Z
dc.date.issued2022
dc.description.abstractBackground: Mucopolysaccharidosis type II, also known as Hunter syndrome, is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme Iduronate-2-Sulfatase (IDS), leading to progressive accumulation of Glycosaminoglycans (GAGs) in several organs. Over the years, Enzyme Replacement Therapy (ERT) has provided significant benefits for patients, retarding the natural progression of the disease. Results: The authors evaluated 17 patients from the same family with a mild form of MPS type II; the proband had developed acute decompensated heart failure refractory to clinical measurements at 23 years and needed a rather urgent heart transplant; however, he died from surgical complications shortly after the procedure. Nevertheless, subsequent to his tragic death, 16 affected male relatives were detected after biochemical tests identifying the low or absent activity of the IDS enzyme and confirmed by molecular analysis of the IDS gene. Following diagnosis, different options of treatment were chosen: 6 patients started ERT with Elaprase (R) (Idursulfase) soon after, while the other 10 remained without ERT. Eventually, 4 patients in the latter group began ERT with Hunterase (R) (Idursulfase Beta). None presented adverse effects to either form of the enzyme. Among the 6 individuals without any ERT, two died of natural causes, after reaching 70 years. Despite the variable phenotype within the same family (mainly heart dysfunctions and carpal tunnel syndrome), all 14 remaining patients were alive with an independent lifestyle. Conclusion: Here, the authors report the variable progress of the disease with and without ERT in a large Brazilian family with a slowly progressive form of MPS II, harboring the same missense variant in the IDS gene.eng
dc.description.indexMEDLINEeng
dc.identifier.citationCLINICS, v.77, article ID 100082, 6p, 2022
dc.identifier.doi10.1016/j.clinsp.2022.100082
dc.identifier.eissn1980-5322
dc.identifier.issn1807-5932
dc.identifier.urihttps://observatorio.fm.usp.br/handle/OPI/49196
dc.language.isoeng
dc.publisherELSEVIER ESPANAeng
dc.relation.ispartofClinics
dc.rightsopenAccesseng
dc.rights.holderCopyright ELSEVIER ESPANAeng
dc.subject.otheridursulfase betaeng
dc.subject.otherhunter-syndromeeng
dc.subject.otherhearing-losseng
dc.subject.otherexperienceeng
dc.subject.otherchildreneng
dc.subject.otheradultseng
dc.subject.wosMedicine, General & Internaleng
dc.titleImpact of ERT and follow-up of 17 patients from the same family with a mild form of MPS IIeng
dc.typearticleeng
dc.type.categoryoriginal articleeng
dc.type.versionpublishedVersioneng
dspace.entity.typePublication
hcfmusp.author.externalPAULA, Ana Carolina de:Univ Sao Paulo HCFMUSP, Inst Crianca, Hosp Clin, Fac Med, Sao Paulo, SP, Brazil
hcfmusp.author.externalCURIATI, Marco Antonio:Univ Sao Paulo HCFMUSP, Ctr Referencia Erros Inatos Metabol CREIM, Sao Paulo, SP, Brazil
hcfmusp.author.externalTENORIO, Artur:Univ Sao Paulo HCFMUSP, Fac Med, Hosp Clin, Oftalmol, Sao Paulo, SP, Brazil
hcfmusp.citation.scopus4
hcfmusp.contributor.author-fmusphcBRUNO DE OLIVEIRA STEPHAN
hcfmusp.contributor.author-fmusphcCAIO ROBLEDO D'ANGIOLI COSTA QUAIO
hcfmusp.contributor.author-fmusphcGUSTAVO MARQUEZANI SPOLADOR
hcfmusp.contributor.author-fmusphcANA MARIA MARTINS
hcfmusp.contributor.author-fmusphcGABRIELA NUNES LEAL
hcfmusp.contributor.author-fmusphcSIMONE FINZI
hcfmusp.contributor.author-fmusphcFLAVIA TEIXEIRA CHIMELO
hcfmusp.contributor.author-fmusphcCARLA GENTILE MATAS
hcfmusp.contributor.author-fmusphcRACHEL SAYURI HONJO KAWAHIRA
hcfmusp.contributor.author-fmusphcDEBORA ROMEO BERTOLA
hcfmusp.contributor.author-fmusphcCHONG AE KIM
hcfmusp.description.articlenumber100082
hcfmusp.description.volume77
hcfmusp.origemWOS
hcfmusp.origem.pubmed35882106
hcfmusp.origem.scieloSCIELO:S1807-59322022000100251
hcfmusp.origem.scopus2-s2.0-85134828411
hcfmusp.origem.wosWOS:000833592000004
hcfmusp.publisher.cityMADRIDeng
hcfmusp.publisher.countrySPAINeng
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hcfmusp.scopus.lastupdate2024-06-09
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