Clinical features of Fabry's disease in Australian patients
Identifieur interne : 002674 ( Istex/Corpus ); précédent : 002673; suivant : 002675Clinical features of Fabry's disease in Australian patients
Auteurs : J. Galanos ; K. Nicholls ; L. Grigg ; L. Kiers ; A. Crawford ; G. BeckerSource :
- Internal Medicine Journal [ 1444-0903 ] ; 2002-12.
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DOI: 10.1046/j.1445-5994.2002.00291.x
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Galanos</name><affiliations><json:string>Departments of Nephrology,</json:string></affiliations></json:item><json:item><name>K. Nicholls</name><affiliations><json:string>Departments of Nephrology,</json:string></affiliations></json:item><json:item><name>L. Grigg</name><affiliations><json:string>2Cardiology</json:string></affiliations></json:item><json:item><name>L. Kiers</name><affiliations><json:string>Neurology and</json:string></affiliations></json:item><json:item><name>A. Crawford</name><affiliations><json:string>Ophthalmology, The Royal Melbourne Hospital, Melbourne, Victoria, Australia</json:string></affiliations></json:item><json:item><name>G. 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patients</title></titleStmt><publicationStmt><publisher>Blackwell Science Pty</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2002-12"></date></publicationStmt><notesStmt><note type="content-type" subtype="article" source="article" scheme="https://content-type.data.istex.fr/ark:/67375/XTP-6N5SZHKN-D">article</note><note type="publication-type" subtype="journal" scheme="https://publication-type.data.istex.fr/ark:/67375/JMC-0GLKJH51-B">journal</note></notesStmt><sourceDesc><biblStruct type="article"><analytic><title level="a" type="main">Clinical features of Fabry's disease in Australian patients</title><title level="a" type="short">Fabry's disease in Australia</title><author xml:id="author-0000"><persName><forename type="first">J.</forename><surname>Galanos</surname></persName><affiliation>Departments of Nephrology,</affiliation></author><author xml:id="author-0001"><persName><forename type="first">K.</forename><surname>Nicholls</surname></persName><affiliation>Departments of Nephrology,</affiliation></author><author xml:id="author-0002"><persName><forename type="first">L.</forename><surname>Grigg</surname></persName><affiliation>Cardiology</affiliation></author><author xml:id="author-0003"><persName><forename type="first">L.</forename><surname>Kiers</surname></persName><affiliation>Neurology and</affiliation></author><author xml:id="author-0004"><persName><forename type="first">A.</forename><surname>Crawford</surname></persName><affiliation>Ophthalmology, The Royal Melbourne Hospital, Melbourne, Victoria, Australia<address><country key="AU"></country></address></affiliation></author><author xml:id="author-0005"><persName><forename type="first">G.</forename><surname>Becker</surname></persName><affiliation>Departments of Nephrology,</affiliation></author><idno type="istex">53C232D50C52EC233C1C969E6E72F3E8FF133CCC</idno><idno type="DOI">10.1046/j.1445-5994.2002.00291.x</idno><idno type="unit">IMJ291</idno><idno type="toTypesetVersion">file:IMJ.IMJ291.pdf</idno></analytic><monogr><title level="j" type="main">Internal Medicine Journal</title><title level="j" type="alt">INTERNAL MEDICINE JOURNAL</title><idno type="pISSN">1444-0903</idno><idno type="eISSN">1445-5994</idno><idno type="book-DOI">10.1111/(ISSN)1445-5994</idno><idno type="book-part-DOI">10.1111/imj.2002.32.issue-12</idno><idno type="product">IMJ</idno><idno type="publisherDivision">ST</idno><imprint><biblScope unit="vol">32</biblScope><biblScope unit="issue">12</biblScope><biblScope unit="page" from="575">575</biblScope><biblScope unit="page" to="584">584</biblScope><biblScope unit="page-count">10</biblScope><publisher>Blackwell Science Pty</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2002-12"></date></imprint></monogr></biblStruct></sourceDesc></fileDesc><profileDesc><abstract xml:lang="en" style="main"><p>
<hi rend="bold">Abstract</hi>
</p><p><hi rend="bold">Background: </hi> Anticipating the prospect of specific treatment, we studied a large group of Australians with Fabry's disease.</p><p><hi rend="bold">Aims:</hi> We aimed to: (i) document the clinical features of Fabry's disease in Australian patients, (ii) test the hypothesis that clinical features vary with specific mutation and blood group and (iii) assess small‐fibre peripheral nerve function.</p><p><hi rend="bold">Methods:</hi> A questionnaire was forwarded to all Australian patients known to us. Patients were invited to attend for clinical, renal cardiac, ophthalmological and neurological assessment.</p><p><hi rend="bold">Results:</hi> Sixty‐seven patients (29 men and 38 women) from 18 families participated. Diagnosis in index cases was delayed by ≥10 years in nearly all families. Common clinical features are: (i) episodic acroparaesthesia (100% of hemizygotes; 53% of heterozygotes), (ii) anhydrosis (93%; 1%), (iii) characteristic rash (93%; 13%), (iv) renal disease (69%; 21%), (v) ischaemic heart disease (28%; 26%), (vi) palpitations (62%; 29%), (vii) mitral valve murmurs (37%; 23%) and (viii) premature cerebrovascular disease (31%; 5%). Ophthalmic findings of cornea verticillata (96%; 76%) and anterior cataract (48%; 14%) were common. Findings were variable within and between families. In women, anhydrosis reliably predicts the presence of significant Fabry's renal disease. Small nerve fibre testing using quantitative sensory testing was clearly abnormal in 95% of male patients, and in those female patients with paraesthesiae.</p><p><hi rend="bold">Conclusions:</hi> Symptoms of anhydrosis, acroparaesthesiae, rash and renal disease suggest diagnosis of Fabry’s. Women are commonly symptomatic, and the advent of therapy highlights the practical advantage of earlier diagnosis. (Intern Med J 2002; 32: 575−584)</p></abstract><textClass><keywords xml:lang="en"><term xml:id="k1">alpha‐galactosidase</term><term xml:id="k2">cornea verticillata</term><term xml:id="k3">Fabry's disease</term><term xml:id="k4">Quantitative Sensory Testing</term><term xml:id="k5">vascular disease.</term></keywords><classCode scheme="tocHeading1">Original Article</classCode></textClass><langUsage><language ident="EN"></language></langUsage></profileDesc></teiHeader></istex:fulltextTEI><json:item><extension>txt</extension><original>false</original><mimetype>text/plain</mimetype><uri>https://api.istex.fr/document/53C232D50C52EC233C1C969E6E72F3E8FF133CCC/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="Wiley, elements deleted: body"><istex:xmlDeclaration>version="1.0" encoding="UTF-8" standalone="yes"</istex:xmlDeclaration><istex:document><component version="2.0" type="serialArticle" xml:lang="en"><header><publicationMeta level="product"><publisherInfo><publisherName>Blackwell Science Pty</publisherName><publisherLoc>Oxford, UK</publisherLoc></publisherInfo><doi origin="wiley" registered="yes">10.1111/(ISSN)1445-5994</doi><issn type="print">1444-0903</issn><issn type="electronic">1445-5994</issn><idGroup><id type="product" value="IMJ"></id><id type="publisherDivision" value="ST"></id></idGroup><titleGroup><title type="main" sort="INTERNAL MEDICINE JOURNAL">Internal Medicine Journal</title></titleGroup></publicationMeta><publicationMeta level="part" position="12012"><doi origin="wiley">10.1111/imj.2002.32.issue-12</doi><numberingGroup><numbering type="journalVolume" number="32">32</numbering><numbering type="journalIssue" number="12">12</numbering></numberingGroup><coverDate startDate="2002-12">December 2002</coverDate></publicationMeta><publicationMeta level="unit" type="article" position="0057500" status="forIssue"><doi origin="wiley">10.1046/j.1445-5994.2002.00291.x</doi><idGroup><id type="unit" value="IMJ291"></id></idGroup><countGroup><count type="pageTotal" number="10"></count></countGroup><titleGroup><title type="tocHeading1">Original Article</title></titleGroup><eventGroup><event type="firstOnline" date="2002-12-11"></event><event type="publishedOnlineFinalForm" date="2002-12-11"></event><event type="xmlConverted" agent="Converter:BPG_TO_WML3G version:2.3.2 mode:FullText source:FullText result:FullText" date="2010-02-27"></event><event type="xmlConverted" agent="Converter:WILEY_ML3G_TO_WILEY_ML3GV2 version:3.8.8" date="2014-01-28"></event><event type="xmlConverted" agent="Converter:WML3G_To_WML3G version:4.1.7 mode:FullText,remove_FC" date="2014-10-24"></event></eventGroup><numberingGroup><numbering type="pageFirst" number="575">575</numbering><numbering type="pageLast" number="584">584</numbering></numberingGroup><correspondenceTo><i>Kathy Nicholls, Department of Nephrology, C/‐ Post Office, The Royal Melbourne Hospital, Parkville, Vic. 3050, Australia. Email: </i><email>kathy.nicholls@mh.org.au</email></correspondenceTo><objectNameGroup><objectName elementName="appendix">Appendix</objectName></objectNameGroup><linkGroup><link type="toTypesetVersion" href="file:IMJ.IMJ291.pdf"></link></linkGroup></publicationMeta><contentMeta><unparsedEditorialHistory><i>Received 24 May 2001;</i> <i>accepted 31 May 2002.</i></unparsedEditorialHistory><countGroup><count type="figureTotal" number="0"></count><count type="tableTotal" number="6"></count><count type="formulaTotal" number="0"></count><count type="referenceTotal" number="18"></count><count type="wordTotal" number="4672"></count><count type="linksPubMed" number="10"></count><count type="linksCrossRef" number="0"></count></countGroup><titleGroup><title type="main">Clinical features of Fabry's disease in Australian patients</title><title type="shortAuthors">Galanos <i>et al.</i></title><title type="short">Fabry's disease in Australia</title></titleGroup><creators><creator creatorRole="author" xml:id="cr1" affiliationRef="#a1"><personName><givenNames>J.</givenNames><familyName>Galanos</familyName></personName></creator><creator creatorRole="author" xml:id="cr2" affiliationRef="#a1"><personName><givenNames>K.</givenNames><familyName>Nicholls</familyName></personName></creator><creator creatorRole="author" xml:id="cr3" affiliationRef="#a2"><personName><givenNames>L.</givenNames><familyName>Grigg</familyName></personName></creator><creator creatorRole="author" xml:id="cr4" affiliationRef="#a3"><personName><givenNames>L.</givenNames><familyName>Kiers</familyName></personName></creator><creator creatorRole="author" xml:id="cr5" affiliationRef="#a4"><personName><givenNames>A.</givenNames><familyName>Crawford</familyName></personName></creator><creator creatorRole="author" xml:id="cr6" affiliationRef="#a1"><personName><givenNames>G.</givenNames><familyName>Becker</familyName></personName></creator></creators><affiliationGroup><affiliation xml:id="a1"><unparsedAffiliation>Departments of Nephrology,</unparsedAffiliation></affiliation><affiliation xml:id="a2"><unparsedAffiliation><sup>2</sup>Cardiology</unparsedAffiliation></affiliation><affiliation xml:id="a3"><unparsedAffiliation>Neurology and</unparsedAffiliation></affiliation><affiliation xml:id="a4" countryCode="AU"><unparsedAffiliation>Ophthalmology, The Royal Melbourne Hospital, Melbourne, Victoria, Australia</unparsedAffiliation></affiliation></affiliationGroup><keywordGroup xml:lang="en"><keyword xml:id="k1">alpha‐galactosidase</keyword><keyword xml:id="k2">cornea verticillata</keyword><keyword xml:id="k3">Fabry's disease</keyword><keyword xml:id="k4">Quantitative Sensory Testing</keyword><keyword xml:id="k5">vascular disease.</keyword></keywordGroup><abstractGroup><abstract type="main" xml:lang="en"><p> <b>Abstract</b> </p><p><b>Background: </b> Anticipating the prospect of specific treatment, we studied a large group of Australians with Fabry's disease.</p><p><b>Aims:</b> We aimed to: (i) document the clinical features of Fabry's disease in Australian patients, (ii) test the hypothesis that clinical features vary with specific mutation and blood group and (iii) assess small‐fibre peripheral nerve function.</p><p><b>Methods:</b> A questionnaire was forwarded to all Australian patients known to us. Patients were invited to attend for clinical, renal cardiac, ophthalmological and neurological assessment.</p><p><b>Results:</b> Sixty‐seven patients (29 men and 38 women) from 18 families participated. Diagnosis in index cases was delayed by ≥10 years in nearly all families. Common clinical features are: (i) episodic acroparaesthesia (100% of hemizygotes; 53% of heterozygotes), (ii) anhydrosis (93%; 1%), (iii) characteristic rash (93%; 13%), (iv) renal disease (69%; 21%), (v) ischaemic heart disease (28%; 26%), (vi) palpitations (62%; 29%), (vii) mitral valve murmurs (37%; 23%) and (viii) premature cerebrovascular disease (31%; 5%). Ophthalmic findings of cornea verticillata (96%; 76%) and anterior cataract (48%; 14%) were common. Findings were variable within and between families. In women, anhydrosis reliably predicts the presence of significant Fabry's renal disease. Small nerve fibre testing using quantitative sensory testing was clearly abnormal in 95% of male patients, and in those female patients with paraesthesiae.</p><p><b>Conclusions:</b> Symptoms of anhydrosis, acroparaesthesiae, rash and renal disease suggest diagnosis of Fabry’s. Women are commonly symptomatic, and the advent of therapy highlights the practical advantage of earlier diagnosis. (Intern Med J 2002; 32: 575−584)</p></abstract></abstractGroup></contentMeta></header></component></istex:document></istex:metadataXml><mods version="3.6"><titleInfo lang="en"><title>Clinical features of Fabry's disease in Australian patients</title></titleInfo><titleInfo type="abbreviated" lang="en"><title>Fabry's disease in Australia</title></titleInfo><titleInfo type="alternative" contentType="CDATA" lang="en"><title>Clinical features of Fabry's disease in Australian patients</title></titleInfo><name type="personal"><namePart type="given">J.</namePart><namePart type="family">Galanos</namePart><affiliation>Departments of Nephrology,</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">K.</namePart><namePart type="family">Nicholls</namePart><affiliation>Departments of Nephrology,</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">L.</namePart><namePart type="family">Grigg</namePart><affiliation>2Cardiology</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">L.</namePart><namePart type="family">Kiers</namePart><affiliation>Neurology and</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">A.</namePart><namePart type="family">Crawford</namePart><affiliation>Ophthalmology, The Royal Melbourne Hospital, Melbourne, Victoria, Australia</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">G.</namePart><namePart type="family">Becker</namePart><affiliation>Departments of Nephrology,</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="article" displayLabel="article"></genre><originInfo><publisher>Blackwell Science Pty</publisher><place><placeTerm type="text">Oxford, UK</placeTerm></place><dateIssued encoding="w3cdtf">2002-12</dateIssued><edition>Received 24 May 2001; accepted 31 May 2002.</edition><copyrightDate encoding="w3cdtf">2002</copyrightDate></originInfo><language><languageTerm type="code" authority="rfc3066">en</languageTerm><languageTerm type="code" authority="iso639-2b">eng</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType><extent unit="tables">6</extent><extent unit="references">18</extent><extent unit="words">4672</extent></physicalDescription><abstract>Abstract</abstract><abstract>Background: Anticipating the prospect of specific treatment, we studied a large group of Australians with Fabry's disease.</abstract><abstract>Aims: We aimed to: (i) document the clinical features of Fabry's disease in Australian patients, (ii) test the hypothesis that clinical features vary with specific mutation and blood group and (iii) assess small‐fibre peripheral nerve function.</abstract><abstract>Methods: A questionnaire was forwarded to all Australian patients known to us. Patients were invited to attend for clinical, renal cardiac, ophthalmological and neurological assessment.</abstract><abstract>Results: Sixty‐seven patients (29 men and 38 women) from 18 families participated. Diagnosis in index cases was delayed by ≥10 years in nearly all families. Common clinical features are: (i) episodic acroparaesthesia (100% of hemizygotes; 53% of heterozygotes), (ii) anhydrosis (93%; 1%), (iii) characteristic rash (93%; 13%), (iv) renal disease (69%; 21%), (v) ischaemic heart disease (28%; 26%), (vi) palpitations (62%; 29%), (vii) mitral valve murmurs (37%; 23%) and (viii) premature cerebrovascular disease (31%; 5%). Ophthalmic findings of cornea verticillata (96%; 76%) and anterior cataract (48%; 14%) were common. Findings were variable within and between families. In women, anhydrosis reliably predicts the presence of significant Fabry's renal disease. Small nerve fibre testing using quantitative sensory testing was clearly abnormal in 95% of male patients, and in those female patients with paraesthesiae.</abstract><abstract>Conclusions: Symptoms of anhydrosis, acroparaesthesiae, rash and renal disease suggest diagnosis of Fabry’s. Women are commonly symptomatic, and the advent of therapy highlights the practical advantage of earlier diagnosis. (Intern Med J 2002; 32: 575−584)</abstract><subject lang="en"><genre>keywords</genre><topic>alpha‐galactosidase</topic><topic>cornea verticillata</topic><topic>Fabry's disease</topic><topic>Quantitative Sensory Testing</topic><topic>vascular disease.</topic></subject><relatedItem type="host"><titleInfo><title>Internal Medicine Journal</title></titleInfo><genre type="journal">journal</genre><identifier type="ISSN">1444-0903</identifier><identifier type="eISSN">1445-5994</identifier><identifier type="DOI">10.1111/(ISSN)1445-5994</identifier><identifier type="PublisherID">IMJ</identifier><part><date>2002</date><detail type="volume"><caption>vol.</caption><number>32</number></detail><detail type="issue"><caption>no.</caption><number>12</number></detail><extent unit="pages"><start>575</start><end>584</end><total>10</total></extent></part></relatedItem><identifier type="istex">53C232D50C52EC233C1C969E6E72F3E8FF133CCC</identifier><identifier type="DOI">10.1046/j.1445-5994.2002.00291.x</identifier><identifier type="ArticleID">IMJ291</identifier><recordInfo><recordContentSource>WILEY</recordContentSource><recordOrigin>Blackwell Science Pty</recordOrigin></recordInfo></mods></metadata><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
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