Lymphatic dysfunction, not aplasia, underlies Milroy disease.
Identifieur interne : 002A43 ( PubMed/Corpus ); précédent : 002A42; suivant : 002A44Lymphatic dysfunction, not aplasia, underlies Milroy disease.
Auteurs : Russell H. Mellor ; Charlotte E. Hubert ; Anthony W B. Stanton ; Naomi Tate ; Victoria Akhras ; Alberto Smith ; Kevin G. Burnand ; Steve Jeffery ; Taija M Kinen ; J Rodney Levick ; Peter S. MortimerSource :
- Microcirculation (New York, N.Y. : 1994) [ 1549-8719 ] ; 2010.
English descriptors
- KwdEn :
- Adult, Aged, Case-Control Studies, Dextrans, Female, Fluorescein-5-isothiocyanate (analogs & derivatives), Fluorescent Dyes, Foot, Forearm, Humans, Immunohistochemistry, Lymphatic System (diagnostic imaging), Lymphatic System (pathology), Lymphatic System (physiopathology), Lymphedema (etiology), Lymphedema (genetics), Lymphedema (pathology), Lymphedema (physiopathology), Lymphography (methods), Male, Middle Aged, Mutation, Ultrasonography, Doppler, Color, Vascular Endothelial Growth Factor Receptor-3 (genetics), Vesicular Transport Proteins (metabolism), Young Adult.
- MESH :
- chemical , analogs & derivatives : Fluorescein-5-isothiocyanate.
- chemical , genetics : Vascular Endothelial Growth Factor Receptor-3.
- chemical , metabolism : Vesicular Transport Proteins.
- chemical : Dextrans, Fluorescent Dyes.
- diagnostic imaging : Lymphatic System.
- etiology : Lymphedema.
- genetics : Lymphedema.
- methods : Lymphography.
- pathology : Lymphatic System, Lymphedema.
- physiopathology : Lymphatic System, Lymphedema.
- Adult, Aged, Case-Control Studies, Female, Foot, Forearm, Humans, Immunohistochemistry, Male, Middle Aged, Mutation, Ultrasonography, Doppler, Color, Young Adult.
Abstract
Milroy disease is an inherited autosomal dominant lymphoedema caused by mutations in the gene for vascular endothelial growth factor receptor-3 (VEGFR-3, also known as FLT4). The phenotype has to date been ascribed to lymphatic aplasia. We further investigated the structural and functional defects underlying the phenotype in humans.
DOI: 10.1111/j.1549-8719.2010.00030.x
PubMed: 20536741
Links to Exploration step
pubmed:20536741Le document en format XML
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Stanton</name></author><author><name sortKey="Tate, Naomi" sort="Tate, Naomi" uniqKey="Tate N" first="Naomi" last="Tate">Naomi Tate</name></author><author><name sortKey="Akhras, Victoria" sort="Akhras, Victoria" uniqKey="Akhras V" first="Victoria" last="Akhras">Victoria Akhras</name></author><author><name sortKey="Smith, Alberto" sort="Smith, Alberto" uniqKey="Smith A" first="Alberto" last="Smith">Alberto Smith</name></author><author><name sortKey="Burnand, Kevin G" sort="Burnand, Kevin G" uniqKey="Burnand K" first="Kevin G" last="Burnand">Kevin G. Burnand</name></author><author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name></author><author><name sortKey="M Kinen, Taija" sort="M Kinen, Taija" uniqKey="M Kinen T" first="Taija" last="M Kinen">Taija M Kinen</name></author><author><name sortKey="Levick, J Rodney" sort="Levick, J Rodney" uniqKey="Levick J" first="J Rodney" last="Levick">J Rodney Levick</name></author><author><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S" last="Mortimer">Peter S. Mortimer</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2010">2010</date><idno type="RBID">pubmed:20536741</idno><idno type="pmid">20536741</idno><idno type="doi">10.1111/j.1549-8719.2010.00030.x</idno><idno type="wicri:Area/PubMed/Corpus">002A43</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">002A43</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Lymphatic dysfunction, not aplasia, underlies Milroy disease.</title><author><name sortKey="Mellor, Russell H" sort="Mellor, Russell H" uniqKey="Mellor R" first="Russell H" last="Mellor">Russell H. Mellor</name><affiliation><nlm:affiliation>Cardiac & Vascular Sciences (Dermatology), St George's Hospital Medical School, University of London, London, UK.</nlm:affiliation></affiliation></author><author><name sortKey="Hubert, Charlotte E" sort="Hubert, Charlotte E" uniqKey="Hubert C" first="Charlotte E" last="Hubert">Charlotte E. Hubert</name></author><author><name sortKey="Stanton, Anthony W B" sort="Stanton, Anthony W B" uniqKey="Stanton A" first="Anthony W B" last="Stanton">Anthony W B. Stanton</name></author><author><name sortKey="Tate, Naomi" sort="Tate, Naomi" uniqKey="Tate N" first="Naomi" last="Tate">Naomi Tate</name></author><author><name sortKey="Akhras, Victoria" sort="Akhras, Victoria" uniqKey="Akhras V" first="Victoria" last="Akhras">Victoria Akhras</name></author><author><name sortKey="Smith, Alberto" sort="Smith, Alberto" uniqKey="Smith A" first="Alberto" last="Smith">Alberto Smith</name></author><author><name sortKey="Burnand, Kevin G" sort="Burnand, Kevin G" uniqKey="Burnand K" first="Kevin G" last="Burnand">Kevin G. Burnand</name></author><author><name sortKey="Jeffery, Steve" sort="Jeffery, Steve" uniqKey="Jeffery S" first="Steve" last="Jeffery">Steve Jeffery</name></author><author><name sortKey="M Kinen, Taija" sort="M Kinen, Taija" uniqKey="M Kinen T" first="Taija" last="M Kinen">Taija M Kinen</name></author><author><name sortKey="Levick, J Rodney" sort="Levick, J Rodney" uniqKey="Levick J" first="J Rodney" last="Levick">J Rodney Levick</name></author><author><name sortKey="Mortimer, Peter S" sort="Mortimer, Peter S" uniqKey="Mortimer P" first="Peter S" last="Mortimer">Peter S. Mortimer</name></author></analytic><series><title level="j">Microcirculation (New York, N.Y. : 1994)</title><idno type="eISSN">1549-8719</idno><imprint><date when="2010" type="published">2010</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Aged</term><term>Case-Control Studies</term><term>Dextrans</term><term>Female</term><term>Fluorescein-5-isothiocyanate (analogs & derivatives)</term><term>Fluorescent Dyes</term><term>Foot</term><term>Forearm</term><term>Humans</term><term>Immunohistochemistry</term><term>Lymphatic System (diagnostic imaging)</term><term>Lymphatic System (pathology)</term><term>Lymphatic System (physiopathology)</term><term>Lymphedema (etiology)</term><term>Lymphedema (genetics)</term><term>Lymphedema (pathology)</term><term>Lymphedema (physiopathology)</term><term>Lymphography (methods)</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Ultrasonography, Doppler, Color</term><term>Vascular Endothelial Growth Factor Receptor-3 (genetics)</term><term>Vesicular Transport Proteins (metabolism)</term><term>Young Adult</term></keywords><keywords scheme="MESH" type="chemical" qualifier="analogs & derivatives" xml:lang="en"><term>Fluorescein-5-isothiocyanate</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Vascular Endothelial Growth Factor Receptor-3</term></keywords><keywords scheme="MESH" type="chemical" qualifier="metabolism" xml:lang="en"><term>Vesicular Transport Proteins</term></keywords><keywords scheme="MESH" type="chemical" xml:lang="en"><term>Dextrans</term><term>Fluorescent Dyes</term></keywords><keywords scheme="MESH" qualifier="diagnostic imaging" xml:lang="en"><term>Lymphatic System</term></keywords><keywords scheme="MESH" qualifier="etiology" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="methods" xml:lang="en"><term>Lymphography</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Lymphatic System</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="physiopathology" xml:lang="en"><term>Lymphatic System</term><term>Lymphedema</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Aged</term><term>Case-Control Studies</term><term>Female</term><term>Foot</term><term>Forearm</term><term>Humans</term><term>Immunohistochemistry</term><term>Male</term><term>Middle Aged</term><term>Mutation</term><term>Ultrasonography, Doppler, Color</term><term>Young Adult</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Milroy disease is an inherited autosomal dominant lymphoedema caused by mutations in the gene for vascular endothelial growth factor receptor-3 (VEGFR-3, also known as FLT4). The phenotype has to date been ascribed to lymphatic aplasia. We further investigated the structural and functional defects underlying the phenotype in humans.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">20536741</PMID><DateCreated><Year>2010</Year><Month>06</Month><Day>11</Day></DateCreated><DateCompleted><Year>2010</Year><Month>09</Month><Day>14</Day></DateCompleted><DateRevised><Year>2016</Year><Month>11</Month><Day>25</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1549-8719</ISSN><JournalIssue CitedMedium="Internet"><Volume>17</Volume><Issue>4</Issue><PubDate><Year>2010</Year><Month>May</Month></PubDate></JournalIssue><Title>Microcirculation (New York, N.Y. : 1994)</Title><ISOAbbreviation>Microcirculation</ISOAbbreviation></Journal><ArticleTitle>Lymphatic dysfunction, not aplasia, underlies Milroy disease.</ArticleTitle><Pagination><MedlinePgn>281-96</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1111/j.1549-8719.2010.00030.x</ELocationID><Abstract><AbstractText Label="OBJECTIVE" NlmCategory="OBJECTIVE">Milroy disease is an inherited autosomal dominant lymphoedema caused by mutations in the gene for vascular endothelial growth factor receptor-3 (VEGFR-3, also known as FLT4). The phenotype has to date been ascribed to lymphatic aplasia. We further investigated the structural and functional defects underlying the phenotype in humans.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">The skin of the swollen foot and the non-swollen forearm was examined by (i) fluorescence microlymphangiography, to quantify functional initial lymphatic density in vivo; and (ii) podoplanin and LYVE-1 immunohistochemistry of biopsies, to quantify structural lymphatic density. Leg vein function was assessed by colour Doppler duplex ultrasound.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Milroy patients exhibited profound (86-91%) functional failure of the initial lymphatics in the foot; the forearm was unimpaired. Dermal lymphatics were present in biopsies but density was reduced by 51-61% (foot) and 26-33% (forearm). Saphenous venous reflux was present in 9/10 individuals with VEGFR3 mutations, including two carriers.</AbstractText><AbstractText Label="CONCLUSION" NlmCategory="CONCLUSIONS">We propose that VEGFR3 mutations in humans cause lymphoedema through a failure of tissue protein and fluid absorption. This is due to a profound functional failure of initial lymphatics and is not explained by microlymphatic hypoplasia alone. The superficial venous valve reflux indicates the dual role of VEGFR-3 in lymphatic and venous development.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Mellor</LastName><ForeName>Russell H</ForeName><Initials>RH</Initials><AffiliationInfo><Affiliation>Cardiac & Vascular Sciences (Dermatology), St George's Hospital Medical School, University of London, London, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Hubert</LastName><ForeName>Charlotte E</ForeName><Initials>CE</Initials></Author><Author ValidYN="Y"><LastName>Stanton</LastName><ForeName>Anthony W B</ForeName><Initials>AW</Initials></Author><Author ValidYN="Y"><LastName>Tate</LastName><ForeName>Naomi</ForeName><Initials>N</Initials></Author><Author ValidYN="Y"><LastName>Akhras</LastName><ForeName>Victoria</ForeName><Initials>V</Initials></Author><Author ValidYN="Y"><LastName>Smith</LastName><ForeName>Alberto</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Burnand</LastName><ForeName>Kevin G</ForeName><Initials>KG</Initials></Author><Author ValidYN="Y"><LastName>Jeffery</LastName><ForeName>Steve</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Mäkinen</LastName><ForeName>Taija</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Levick</LastName><ForeName>J Rodney</ForeName><Initials>JR</Initials></Author><Author ValidYN="Y"><LastName>Mortimer</LastName><ForeName>Peter S</ForeName><Initials>PS</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>PG/02/111</GrantID><Agency>British Heart Foundation</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Microcirculation</MedlineTA><NlmUniqueID>9434935</NlmUniqueID><ISSNLinking>1073-9688</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D003911">Dextrans</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D005456">Fluorescent Dyes</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C119248">LYVE1 protein, human</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D033921">Vesicular Transport Proteins</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C015219">fluorescein isothiocyanate dextran</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 2.7.10.1</RegistryNumber><NameOfSubstance UI="D040321">Vascular Endothelial Growth Factor 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MajorTopicYN="N">Fluorescent Dyes</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005528" MajorTopicYN="N">Foot</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005542" MajorTopicYN="N">Forearm</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007150" MajorTopicYN="N">Immunohistochemistry</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008208" MajorTopicYN="N">Lymphatic System</DescriptorName><QualifierName UI="Q000000981" MajorTopicYN="N">diagnostic imaging</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName><QualifierName UI="Q000503" MajorTopicYN="Y">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000209" MajorTopicYN="Y">etiology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName><QualifierName UI="Q000503" MajorTopicYN="N">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008220" MajorTopicYN="N">Lymphography</DescriptorName><QualifierName UI="Q000379" MajorTopicYN="N">methods</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D018615" MajorTopicYN="N">Ultrasonography, Doppler, Color</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D040321" MajorTopicYN="N">Vascular Endothelial Growth Factor Receptor-3</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D033921" MajorTopicYN="N">Vesicular Transport Proteins</DescriptorName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D055815" MajorTopicYN="N">Young Adult</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>6</Month><Day>12</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>6</Month><Day>12</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2010</Year><Month>9</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">20536741</ArticleId><ArticleId IdType="pii">MICC30</ArticleId><ArticleId 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