Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain
Identifieur interne : 003447 ( Pmc/Checkpoint ); précédent : 003446; suivant : 003448Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain
Auteurs : Ki Bum Park [Corée du Sud] ; Kyung Ream Han [Corée du Sud] ; Jae Woo Lee [Corée du Sud] ; Seung Ho Kim [Corée du Sud] ; Do Wan Kim [Corée du Sud] ; Chan Kim [Corée du Sud] ; Jung Min Ko [Corée du Sud]Source :
- The Korean Journal of Pain [ 2005-9159 ] ; 2010.
Abstract
Fabry disease is an X-linked lysosomal disease caused by deficiency of α-galactosidase, in which early diagnosis may be missed due to the wide variety of clinical symptoms presenting during disease progression. A 13 year-old boy visited our pain clinic complaining of pricking and burning pain in the toe tips of both feet. Continuous epidural infusion for pain management was performed because of oral analgesics ineffectiveness. The patient underwent α-galactosidase A (GLA) enzyme analysis based on the clinical impression of Fabry disease from pain with a peripheral neuropathic component and history of anhidrosis. He was diagnosed with Fabry disease after confirming mutation of the GLA gene through a screening test of GLA activity. Enzyme replacement therapy was initiated and pain was tolerated with oral analgesics.
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DOI: 10.3344/kjp.2010.23.3.207
PubMed: 20830268
PubMed Central: 2935984
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xml:lang="fr" wicri:curation="lc">Corée du Sud</country><wicri:regionArea>Department of Anesthesiology and Pain Medicine, Ajou University Hospital, College of Medicine, Ajou University, Suwon</wicri:regionArea><wicri:noRegion>Suwon</wicri:noRegion></affiliation></author><author><name sortKey="Lee, Jae Woo" sort="Lee, Jae Woo" uniqKey="Lee J" first="Jae Woo" last="Lee">Jae Woo Lee</name><affiliation wicri:level="3"><nlm:aff id="A3">Department of Anesthesiology and Pain Medicine, College of Medicine, Eulji University, Eulji Hospital, Seoul, Korea.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Corée du Sud</country><wicri:regionArea>Department of Anesthesiology and Pain Medicine, College of Medicine, Eulji University, Eulji Hospital, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement><region type="capital">Région capitale de Séoul</region></placeName></affiliation></author><author><name sortKey="Kim, Seung Ho" sort="Kim, Seung Ho" uniqKey="Kim S" first="Seung Ho" last="Kim">Seung Ho Kim</name><affiliation wicri:level="1"><nlm:aff id="A4">Department of Anesthesiology and Pain Medicine, College of Medicine, Konyang University, Daejeon, Korea.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Corée du Sud</country><wicri:regionArea>Department of Anesthesiology and Pain Medicine, College of Medicine, Konyang University, Daejeon</wicri:regionArea><wicri:noRegion>Daejeon</wicri:noRegion></affiliation></author><author><name sortKey="Kim, Do Wan" sort="Kim, Do Wan" uniqKey="Kim D" first="Do Wan" last="Kim">Do Wan Kim</name><affiliation wicri:level="1"><nlm:aff id="A2">Department of Anesthesiology and Pain Medicine, Ajou University Hospital, College of Medicine, Ajou University, Suwon, Korea.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Corée du Sud</country><wicri:regionArea>Department of Anesthesiology and Pain Medicine, Ajou University Hospital, College of Medicine, Ajou University, 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wicri:step="Checkpoint">003447</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain</title><author><name sortKey="Park, Ki Bum" sort="Park, Ki Bum" uniqKey="Park K" first="Ki Bum" last="Park">Ki Bum Park</name><affiliation wicri:level="1"><nlm:aff id="A1">Department of Anesthesiology and Pain Medicine, College of Medicine, Yeungnam University, Daegu, Korea.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Corée du Sud</country><wicri:regionArea>Department of Anesthesiology and Pain Medicine, College of Medicine, Yeungnam University, Daegu</wicri:regionArea><wicri:noRegion>Daegu</wicri:noRegion></affiliation></author><author><name sortKey="Han, Kyung Ream" sort="Han, Kyung Ream" uniqKey="Han K" first="Kyung Ream" last="Han">Kyung Ream Han</name><affiliation wicri:level="1"><nlm:aff id="A2">Department of Anesthesiology and Pain Medicine, Ajou University Hospital, College of Medicine, Ajou University, Suwon, Korea.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Corée du Sud</country><wicri:regionArea>Department of Anesthesiology and Pain Medicine, Ajou University Hospital, College of Medicine, Ajou University, Suwon</wicri:regionArea><wicri:noRegion>Suwon</wicri:noRegion></affiliation></author><author><name sortKey="Lee, Jae Woo" sort="Lee, Jae Woo" uniqKey="Lee J" first="Jae Woo" last="Lee">Jae Woo Lee</name><affiliation wicri:level="3"><nlm:aff id="A3">Department of Anesthesiology and Pain Medicine, College of Medicine, Eulji University, Eulji Hospital, Seoul, Korea.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Corée du Sud</country><wicri:regionArea>Department of Anesthesiology and Pain Medicine, College of Medicine, Eulji University, Eulji Hospital, Seoul</wicri:regionArea><placeName><settlement type="city">Séoul</settlement><region type="capital">Région capitale de Séoul</region></placeName></affiliation></author><author><name sortKey="Kim, Seung Ho" sort="Kim, Seung Ho" uniqKey="Kim S" first="Seung Ho" last="Kim">Seung Ho Kim</name><affiliation wicri:level="1"><nlm:aff id="A4">Department of Anesthesiology and Pain Medicine, College of Medicine, Konyang University, Daejeon, Korea.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Corée du Sud</country><wicri:regionArea>Department of Anesthesiology and Pain Medicine, College of Medicine, Konyang University, Daejeon</wicri:regionArea><wicri:noRegion>Daejeon</wicri:noRegion></affiliation></author><author><name sortKey="Kim, Do Wan" sort="Kim, Do Wan" uniqKey="Kim D" first="Do Wan" last="Kim">Do Wan Kim</name><affiliation wicri:level="1"><nlm:aff id="A2">Department of Anesthesiology and Pain Medicine, Ajou University Hospital, College of Medicine, Ajou University, Suwon, Korea.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Corée du Sud</country><wicri:regionArea>Department of Anesthesiology and Pain Medicine, Ajou University Hospital, College of Medicine, Ajou University, Suwon</wicri:regionArea><wicri:noRegion>Suwon</wicri:noRegion></affiliation></author><author><name sortKey="Kim, Chan" sort="Kim, Chan" uniqKey="Kim C" first="Chan" last="Kim">Chan Kim</name><affiliation wicri:level="1"><nlm:aff id="A2">Department of Anesthesiology and Pain Medicine, Ajou University Hospital, College of Medicine, Ajou University, Suwon, Korea.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Corée du Sud</country><wicri:regionArea>Department of Anesthesiology and Pain Medicine, Ajou University Hospital, College of Medicine, Ajou University, Suwon</wicri:regionArea><wicri:noRegion>Suwon</wicri:noRegion></affiliation></author><author><name sortKey="Ko, Jung Min" sort="Ko, Jung Min" uniqKey="Ko J" first="Jung Min" last="Ko">Jung Min Ko</name><affiliation wicri:level="1"><nlm:aff id="A5">Department of Medical Genetics, Ajou University Hospital, College of Medicine, Ajou University, Suwon, Korea.</nlm:aff><country xml:lang="fr" wicri:curation="lc">Corée du Sud</country><wicri:regionArea>Department of Medical Genetics, Ajou University Hospital, College of Medicine, Ajou University, Suwon</wicri:regionArea><wicri:noRegion>Suwon</wicri:noRegion></affiliation></author></analytic><series><title level="j">The Korean Journal of Pain</title><idno type="ISSN">2005-9159</idno><idno type="eISSN">2093-0569</idno><imprint><date when="2010">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Fabry disease is an X-linked lysosomal disease caused by deficiency of α-galactosidase, in which early diagnosis may be missed due to the wide variety of clinical symptoms presenting during disease progression. A 13 year-old boy visited our pain clinic complaining of pricking and burning pain in the toe tips of both feet. Continuous epidural infusion for pain management was performed because of oral analgesics ineffectiveness. The patient underwent α-galactosidase A (GLA) enzyme analysis based on the clinical impression of Fabry disease from pain with a peripheral neuropathic component and history of anhidrosis. He was diagnosed with Fabry disease after confirming mutation of the GLA gene through a screening test of GLA activity. 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<front><journal-meta><journal-id journal-id-type="nlm-ta">Korean J Pain</journal-id><journal-id journal-id-type="publisher-id">KJP</journal-id><journal-title-group><journal-title>The Korean Journal of Pain</journal-title></journal-title-group><issn pub-type="ppub">2005-9159</issn><issn pub-type="epub">2093-0569</issn><publisher><publisher-name>The Korean Pain Society</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">20830268</article-id><article-id pub-id-type="pmc">2935984</article-id><article-id pub-id-type="doi">10.3344/kjp.2010.23.3.207</article-id><article-categories><subj-group subj-group-type="heading"><subject>Case Report</subject></subj-group></article-categories><title-group><article-title>Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Park</surname><given-names>Ki Bum</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A1"></xref></contrib><contrib contrib-type="author" corresp="yes"><name><surname>Han</surname><given-names>Kyung Ream</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A2">*</xref></contrib><contrib contrib-type="author"><name><surname>Lee</surname><given-names>Jae Woo</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A3">†</xref></contrib><contrib contrib-type="author"><name><surname>Kim</surname><given-names>Seung Ho</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A4">‡</xref></contrib><contrib contrib-type="author"><name><surname>Kim</surname><given-names>Do Wan</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A2">*</xref></contrib><contrib contrib-type="author"><name><surname>Kim</surname><given-names>Chan</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A2">*</xref></contrib><contrib contrib-type="author"><name><surname>Ko</surname><given-names>Jung Min</given-names></name><degrees>MD</degrees><xref ref-type="aff" rid="A5">§</xref></contrib></contrib-group><aff id="A1">Department of Anesthesiology and Pain Medicine, College of Medicine, Yeungnam University, Daegu, Korea.</aff><aff id="A2"><label>*</label>Department of Anesthesiology and Pain Medicine, Ajou University Hospital, College of Medicine, Ajou University, Suwon, Korea.</aff><aff id="A3"><label>†</label>Department of Anesthesiology and Pain Medicine, College of Medicine, Eulji University, Eulji Hospital, Seoul, Korea.</aff><aff id="A4"><label>‡</label>Department of Anesthesiology and Pain Medicine, College of Medicine, Konyang University, Daejeon, Korea.</aff><aff id="A5"><label>§</label>Department of Medical Genetics, Ajou University Hospital, College of Medicine, Ajou University, Suwon, Korea.</aff><author-notes><corresp>Correspondence to: Kyung Ream Han, MD. Department of Anesthesiology and Pain Medicine, Ajou University Hospital, San 5, Woncheon-dong, Paldal-gu, Suwon 442-721, Korea. Tel: +82-31-219-5689, Fax: +82-31-219-5579, <email>painhan@hanmir.com</email></corresp></author-notes><pub-date pub-type="ppub"><month>9</month><year>2010</year></pub-date><pub-date pub-type="epub"><day>26</day><month>8</month><year>2010</year></pub-date><volume>23</volume><issue>3</issue><fpage>207</fpage><lpage>210</lpage><history><date date-type="received"><day>26</day><month>5</month><year>2010</year></date><date date-type="rev-recd"><day>29</day><month>7</month><year>2010</year></date><date date-type="accepted"><day>29</day><month>7</month><year>2010</year></date></history><permissions><copyright-statement>Copyright © The Korean Pain Society, 2010</copyright-statement><copyright-year>2010</copyright-year><license license-type="open-access" xlink:href="http://creativecommons.org/licenses/by-nc/3.0/"><license-p>This is an open-access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (<ext-link ext-link-type="uri" xlink:href="http://creativecommons.org/licenses/by-nc/3.0/">http://creativecommons.org/licenses/by-nc/3.0/</ext-link>), which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.</license-p></license></permissions><abstract><p>Fabry disease is an X-linked lysosomal disease caused by deficiency of α-galactosidase, in which early diagnosis may be missed due to the wide variety of clinical symptoms presenting during disease progression. A 13 year-old boy visited our pain clinic complaining of pricking and burning pain in the toe tips of both feet. Continuous epidural infusion for pain management was performed because of oral analgesics ineffectiveness. The patient underwent α-galactosidase A (GLA) enzyme analysis based on the clinical impression of Fabry disease from pain with a peripheral neuropathic component and history of anhidrosis. He was diagnosed with Fabry disease after confirming mutation of the GLA gene through a screening test of GLA activity. Enzyme replacement therapy was initiated and pain was tolerated with oral analgesics.</p></abstract><kwd-group><kwd>acroparesthesia</kwd><kwd>agalsidase beta</kwd><kwd>anhidrosis</kwd><kwd>fabry disease</kwd></kwd-group></article-meta></front></pmc><affiliations><list><country><li>Corée du Sud</li></country><region><li>Région capitale de Séoul</li></region><settlement><li>Séoul</li></settlement></list><tree><country name="Corée du Sud"><noRegion><name sortKey="Park, Ki Bum" sort="Park, Ki Bum" uniqKey="Park K" first="Ki Bum" last="Park">Ki Bum Park</name></noRegion><name sortKey="Han, Kyung Ream" sort="Han, Kyung Ream" uniqKey="Han K" first="Kyung Ream" last="Han">Kyung Ream Han</name><name sortKey="Kim, Chan" sort="Kim, Chan" uniqKey="Kim C" first="Chan" last="Kim">Chan Kim</name><name sortKey="Kim, Do Wan" sort="Kim, Do Wan" uniqKey="Kim D" first="Do Wan" last="Kim">Do Wan Kim</name><name sortKey="Kim, Seung Ho" sort="Kim, Seung Ho" uniqKey="Kim S" first="Seung Ho" last="Kim">Seung Ho Kim</name><name sortKey="Ko, Jung Min" sort="Ko, Jung Min" uniqKey="Ko J" first="Jung Min" last="Ko">Jung Min Ko</name><name sortKey="Lee, Jae Woo" sort="Lee, Jae Woo" uniqKey="Lee J" first="Jae Woo" last="Lee">Jae Woo Lee</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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