Please use this identifier to cite or link to this item:
Full metadata record
DC FieldValueLanguage
dc.contributorSistema FMUSP-HC: Faculdade de Medicina da Universidade de São Paulo (FMUSP) e Hospital das Clínicas da FMUSP-
dc.contributor.authorQUAIO, C. R. D. C.-
dc.contributor.authorGRINBERG, H.-
dc.contributor.authorVIEIRA, M. L. C.-
dc.contributor.authorPAULA, A. C.-
dc.contributor.authorLEAL, G. N.-
dc.contributor.authorGOMY, I.-
dc.contributor.authorLEISTNER-SEGAL, S.-
dc.contributor.authorGIUGLIANI, R.-
dc.contributor.authorBERTOLA, D. R.-
dc.contributor.authorKIM, C. A.-
dc.identifier.citationReport of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II). In: . JIMD REPORTS - CASE AND RESEARCH REPORTS, 2012/1, v.4. BERLIN: SPRINGER-VERLAG BERLIN, 2012. p.125-128. (JIMD Reports)-
dc.description.abstractHunter syndrome, or Mucopolysaccharidosis type II (MPS II), is a rare X-linked recessive disorder caused by a deficiency of the lysosomal enzyme iduronate-2-sulfatase (IDS). The phenotypic spectrum varies from severe to attenuated clinical forms. We report a large Brazilian family with 16 affected individuals exhibiting a very attenuated form of MPS II. Fourteen female carriers were also identified. Twelve affected male patients, whose ages ranged from 1 to 35 years, were examined. Molecular analysis showed a novel missense mutation (p.A77D) in the IDS gene, confirming the diagnosis. Nine of the family members presented some degree of heart damage, though only the proband became symptomatic and required heart transplantation. One 19-year-old adult and 1-year-old twin boys each had a normal echocardiogram. Short stature was found in two adults while macrocephaly was found in one; the remaining adults had anthropometric measures within normal range. All affected adults had normal cognitive development and were able to perform normal daily activities, except one who had mild learning disability. Two patients died due to natural causes beyond 70 years of age. The female carriers did not present any signs of disease. In this large family with a mild form of MPS II and variable degree of clinical manifestations, it is noteworthy that several affected individuals have remained asymptomatic even at advanced age and even without enzyme replacement therapy.-
dc.relation.ispartofJIMD REPORTS - CASE AND RESEARCH REPORTS, 2012/1-
dc.relation.ispartofseriesJIMD Reports-
dc.titleReport of a Large Brazilian Family With a Very Attenuated Form of Hunter Syndrome (MPS II)-
dc.rights.holderCopyright SPRINGER-VERLAG BERLIN-
dc.subject.wosGenetics & Heredity-
dc.type.categorybook chapter-
dc.type.versionpublishedVersion-, H.:Univ Sao Paulo, Fac Med, Hosp Clin, Incor, Sao Paulo, Brazil-, A. C.:Univ Sao Paulo, Fac Med, Hosp Clin, Inst Crianca, Sao Paulo, Brazil-, S.:Univ Fed Rio Grande do Sul, Hosp Clin, Porto Alegre, RS, Brazil-, R.:Univ Fed Rio Grande do Sul, Hosp Clin, Porto Alegre, RS, Brazil-
hcfmusp.relation.referenceMartin R, 2008, PEDIATRICS, V121, pE377, DOI 10.1542/peds.2007-1350-
hcfmusp.relation.referenceMuenzer J, 2009, PEDIATRICS, V124, pE1228, DOI 10.1542/peds.2008-0999-
hcfmusp.relation.referenceMuenzer J, 2011, GENET MED, V13, P95, DOI 10.1097/GIM.0b013e3181fea459-
hcfmusp.relation.referenceDIFERRAN.N, 1972, JOHNS HOPKINS MED J, V130, P325-
hcfmusp.relation.referenceSASAKI CT, 1987, LARYNGOSCOPE, V97, P280-
hcfmusp.relation.referenceScarpa M, 2011, GENEREVIEWS GENETEST-
hcfmusp.relation.referenceWraith JE, 2008, GENET MED, V10, P508, DOI [10.1097GIM.0b013e31817701e6, 10.1097/GIM.0b013e31817701e6]-
hcfmusp.relation.referenceWraith JE, 2008, EUR J PEDIATR, V167, P267, DOI 10.1007/s00431-007-0635-4-
Appears in Collections:

Livros e Capítulos de Livros - HC/ICr
Instituto da Criança - HC/ICr

Livros e Capítulos de Livros - HC/InCor
Instituto do Coração - HC/InCor

Livros e Capítulos de Livros - LIM/36
LIM/36 - Laboratório de Pediatria Clínica

Files in This Item:
There are no files associated with this item.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.