Fabry's disease with familial lymphedema of the lower limbs. Case report and family study.
Identifieur interne : 006F92 ( PubMed/Corpus ); précédent : 006F91; suivant : 006F93Fabry's disease with familial lymphedema of the lower limbs. Case report and family study.
Auteurs : F. Gemignani ; V. Pietrini ; F. Tagliavini ; A. Lechi ; T M Neri ; A. Asinari ; M. SaviSource :
- European neurology [ 0014-3022 ] ; 1979.
English descriptors
- KwdEn :
- Cerebroside-Sulfatase (genetics), Fabry Disease (enzymology), Fabry Disease (genetics), Fabry Disease (pathology), Female, Galactosidases (genetics), Glucosidases (genetics), Hexosaminidases (genetics), Humans, Kidney (pathology), Leg, Lymphedema (enzymology), Lymphedema (genetics), Lymphedema (pathology), Male, Middle Aged, Pedigree, Skin (pathology).
- MESH :
- chemical , genetics : Cerebroside-Sulfatase, Galactosidases, Glucosidases, Hexosaminidases.
- enzymology : Fabry Disease, Lymphedema.
- genetics : Fabry Disease, Lymphedema.
- pathology : Fabry Disease, Kidney, Lymphedema, Skin.
- Female, Humans, Leg, Male, Middle Aged, Pedigree.
Abstract
The case of a 49-year-old man with Fabry's disease (FD), confirmed by histopathological findings of kidney and skin biopsies and enzymatic studies, is reported. Clinical symptoms mainly consisted in severe neurological involvement, and in conspicuous lymphedema of the lower limbs. Two decreased brothers of the patient were also affected with symptons strongly suggesting FD, as well as the lymphedema of the lower limbs. On the basis of these data, the association of FD with familial lymphedema of the lower limbs is discussed: a lipid accumulation in the lymphatic as well as the blood vessel wall is proposed as a possible explanation; the hypothesis of an inborn error in the development of the lymphatic system, controlled by a gene closedly associated with the FD gene on the same chromosome can also be advanced.
PubMed: 37087
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pubmed:37087Le document en format XML
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Asinari</name></author><author><name sortKey="Savi, M" sort="Savi, M" uniqKey="Savi M" first="M" last="Savi">M. Savi</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="1979">1979</date><idno type="RBID">pubmed:37087</idno><idno type="pmid">37087</idno><idno type="wicri:Area/PubMed/Corpus">006F92</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">006F92</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Fabry's disease with familial lymphedema of the lower limbs. Case report and family study.</title><author><name sortKey="Gemignani, F" sort="Gemignani, F" uniqKey="Gemignani F" first="F" last="Gemignani">F. Gemignani</name></author><author><name sortKey="Pietrini, V" sort="Pietrini, V" uniqKey="Pietrini V" first="V" last="Pietrini">V. Pietrini</name></author><author><name sortKey="Tagliavini, F" sort="Tagliavini, F" uniqKey="Tagliavini F" first="F" last="Tagliavini">F. Tagliavini</name></author><author><name sortKey="Lechi, A" sort="Lechi, A" uniqKey="Lechi A" first="A" last="Lechi">A. Lechi</name></author><author><name sortKey="Neri, T M" sort="Neri, T M" uniqKey="Neri T" first="T M" last="Neri">T M Neri</name></author><author><name sortKey="Asinari, A" sort="Asinari, A" uniqKey="Asinari A" first="A" last="Asinari">A. Asinari</name></author><author><name sortKey="Savi, M" sort="Savi, M" uniqKey="Savi M" first="M" last="Savi">M. Savi</name></author></analytic><series><title level="j">European neurology</title><idno type="ISSN">0014-3022</idno><imprint><date when="1979" type="published">1979</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Cerebroside-Sulfatase (genetics)</term><term>Fabry Disease (enzymology)</term><term>Fabry Disease (genetics)</term><term>Fabry Disease (pathology)</term><term>Female</term><term>Galactosidases (genetics)</term><term>Glucosidases (genetics)</term><term>Hexosaminidases (genetics)</term><term>Humans</term><term>Kidney (pathology)</term><term>Leg</term><term>Lymphedema (enzymology)</term><term>Lymphedema (genetics)</term><term>Lymphedema (pathology)</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term><term>Skin (pathology)</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Cerebroside-Sulfatase</term><term>Galactosidases</term><term>Glucosidases</term><term>Hexosaminidases</term></keywords><keywords scheme="MESH" qualifier="enzymology" xml:lang="en"><term>Fabry Disease</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Fabry Disease</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Fabry Disease</term><term>Kidney</term><term>Lymphedema</term><term>Skin</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Female</term><term>Humans</term><term>Leg</term><term>Male</term><term>Middle Aged</term><term>Pedigree</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">The case of a 49-year-old man with Fabry's disease (FD), confirmed by histopathological findings of kidney and skin biopsies and enzymatic studies, is reported. Clinical symptoms mainly consisted in severe neurological involvement, and in conspicuous lymphedema of the lower limbs. Two decreased brothers of the patient were also affected with symptons strongly suggesting FD, as well as the lymphedema of the lower limbs. On the basis of these data, the association of FD with familial lymphedema of the lower limbs is discussed: a lipid accumulation in the lymphatic as well as the blood vessel wall is proposed as a possible explanation; the hypothesis of an inborn error in the development of the lymphatic system, controlled by a gene closedly associated with the FD gene on the same chromosome can also be advanced.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">37087</PMID><DateCreated><Year>1979</Year><Month>09</Month><Day>25</Day></DateCreated><DateCompleted><Year>1979</Year><Month>09</Month><Day>25</Day></DateCompleted><DateRevised><Year>2004</Year><Month>11</Month><Day>17</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0014-3022</ISSN><JournalIssue CitedMedium="Print"><Volume>18</Volume><Issue>2</Issue><PubDate><Year>1979</Year></PubDate></JournalIssue><Title>European neurology</Title><ISOAbbreviation>Eur. Neurol.</ISOAbbreviation></Journal><ArticleTitle>Fabry's disease with familial lymphedema of the lower limbs. Case report and family study.</ArticleTitle><Pagination><MedlinePgn>84-90</MedlinePgn></Pagination><Abstract><AbstractText>The case of a 49-year-old man with Fabry's disease (FD), confirmed by histopathological findings of kidney and skin biopsies and enzymatic studies, is reported. Clinical symptoms mainly consisted in severe neurological involvement, and in conspicuous lymphedema of the lower limbs. Two decreased brothers of the patient were also affected with symptons strongly suggesting FD, as well as the lymphedema of the lower limbs. On the basis of these data, the association of FD with familial lymphedema of the lower limbs is discussed: a lipid accumulation in the lymphatic as well as the blood vessel wall is proposed as a possible explanation; the hypothesis of an inborn error in the development of the lymphatic system, controlled by a gene closedly associated with the FD gene on the same chromosome can also be advanced.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Gemignani</LastName><ForeName>F</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Pietrini</LastName><ForeName>V</ForeName><Initials>V</Initials></Author><Author ValidYN="Y"><LastName>Tagliavini</LastName><ForeName>F</ForeName><Initials>F</Initials></Author><Author ValidYN="Y"><LastName>Lechi</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Neri</LastName><ForeName>T M</ForeName><Initials>TM</Initials></Author><Author ValidYN="Y"><LastName>Asinari</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Savi</LastName><ForeName>M</ForeName><Initials>M</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>Switzerland</Country><MedlineTA>Eur Neurol</MedlineTA><NlmUniqueID>0150760</NlmUniqueID><ISSNLinking>0014-3022</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>EC 3.1.6.8</RegistryNumber><NameOfSubstance UI="D002553">Cerebroside-Sulfatase</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.2.1.-</RegistryNumber><NameOfSubstance UI="D005696">Galactosidases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.2.1.-</RegistryNumber><NameOfSubstance UI="D005959">Glucosidases</NameOfSubstance></Chemical><Chemical><RegistryNumber>EC 3.2.1.-</RegistryNumber><NameOfSubstance UI="D006596">Hexosaminidases</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D002553" MajorTopicYN="N">Cerebroside-Sulfatase</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D000795" MajorTopicYN="N">Fabry Disease</DescriptorName><QualifierName UI="Q000201" MajorTopicYN="N">enzymology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005696" MajorTopicYN="N">Galactosidases</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005959" MajorTopicYN="N">Glucosidases</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006596" MajorTopicYN="N">Hexosaminidases</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007668" MajorTopicYN="N">Kidney</DescriptorName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D007866" MajorTopicYN="N">Leg</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000201" MajorTopicYN="N">enzymology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008875" MajorTopicYN="N">Middle Aged</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D012867" MajorTopicYN="N">Skin</DescriptorName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>1979</Year><Month>1</Month><Day>1</Day></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>1979</Year><Month>1</Month><Day>1</Day><Hour>0</Hour><Minute>1</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>1979</Year><Month>1</Month><Day>1</Day><Hour>0</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">37087</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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