[Fabry's disease, glomerulonephritis with crescentic and granulomatous interstitial nephritis. Case of one family].
Identifieur interne : 000765 ( PubMed/Corpus ); précédent : 000764; suivant : 000766[Fabry's disease, glomerulonephritis with crescentic and granulomatous interstitial nephritis. Case of one family].
Auteurs : J. Kriegsmann ; M. Otto ; E. Wandel ; A. Schwarting ; J. Faust ; T. Hansen ; J. Beck ; C. Whybra ; M. BeckSource :
- Der Pathologe [ 0172-8113 ] ; 2003.
English descriptors
- KwdEn :
- Adult, Fabry Disease (complications), Fabry Disease (genetics), Fabry Disease (pathology), Female, Glomerulonephritis (complications), Glomerulonephritis (genetics), Glomerulonephritis (pathology), Humans, Kidney Glomerulus (pathology), Kidney Glomerulus (ultrastructure), Male, Nephritis, Interstitial (complications), Nephritis, Interstitial (genetics), Nephritis, Interstitial (pathology), Nuclear Family.
- MESH :
- complications : Fabry Disease, Glomerulonephritis, Nephritis, Interstitial.
- genetics : Fabry Disease, Glomerulonephritis, Nephritis, Interstitial.
- pathology : Fabry Disease, Glomerulonephritis, Kidney Glomerulus, Nephritis, Interstitial.
- ultrastructure : Kidney Glomerulus.
- Adult, Female, Humans, Male, Nuclear Family.
Abstract
A 26-year-old female patient was admitted to the hospital because of fever of unknown origin and renal failure. Diagnosis of Fabry's disease, extracapillary proliferative (crescentic) glomerulonephritis and granulomatous interstitial nephritis was made by histological, immunohistochemical and electron microscopical diagnosis in a kidney biopsy and confirmed by further investigations. Years ago the brother of the patient had a kidney biopsy diagnosed as metabolic disease. The re-evaluation of this biopsy confirmed Fabry's disease while in this patient an association with tubulointerstitial nephritis occurred. To our knowledge this is the first family with two members having Fabry's disease combined with further kidney diseases.
DOI: 10.1007/s00292-003-0659-0
PubMed: 14605848
Links to Exploration step
pubmed:14605848Le document en format XML
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Faust</name></author><author><name sortKey="Hansen, T" sort="Hansen, T" uniqKey="Hansen T" first="T" last="Hansen">T. Hansen</name></author><author><name sortKey="Beck, J" sort="Beck, J" uniqKey="Beck J" first="J" last="Beck">J. Beck</name></author><author><name sortKey="Whybra, C" sort="Whybra, C" uniqKey="Whybra C" first="C" last="Whybra">C. Whybra</name></author><author><name sortKey="Beck, M" sort="Beck, M" uniqKey="Beck M" first="M" last="Beck">M. Beck</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2003">2003</date><idno type="RBID">pubmed:14605848</idno><idno type="pmid">14605848</idno><idno type="doi">10.1007/s00292-003-0659-0</idno><idno type="wicri:Area/PubMed/Corpus">000765</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">000765</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">[Fabry's disease, glomerulonephritis with crescentic and granulomatous interstitial nephritis. Case of one family].</title><author><name sortKey="Kriegsmann, J" sort="Kriegsmann, J" uniqKey="Kriegsmann J" first="J" last="Kriegsmann">J. Kriegsmann</name><affiliation><nlm:affiliation>Gemeinschaftspraxis für Pathologie, Trier. kriegsmann@patho-trier.de</nlm:affiliation></affiliation></author><author><name sortKey="Otto, M" sort="Otto, M" uniqKey="Otto M" first="M" last="Otto">M. Otto</name></author><author><name sortKey="Wandel, E" sort="Wandel, E" uniqKey="Wandel E" first="E" last="Wandel">E. Wandel</name></author><author><name sortKey="Schwarting, A" sort="Schwarting, A" uniqKey="Schwarting A" first="A" last="Schwarting">A. Schwarting</name></author><author><name sortKey="Faust, J" sort="Faust, J" uniqKey="Faust J" first="J" last="Faust">J. Faust</name></author><author><name sortKey="Hansen, T" sort="Hansen, T" uniqKey="Hansen T" first="T" last="Hansen">T. Hansen</name></author><author><name sortKey="Beck, J" sort="Beck, J" uniqKey="Beck J" first="J" last="Beck">J. Beck</name></author><author><name sortKey="Whybra, C" sort="Whybra, C" uniqKey="Whybra C" first="C" last="Whybra">C. Whybra</name></author><author><name sortKey="Beck, M" sort="Beck, M" uniqKey="Beck M" first="M" last="Beck">M. Beck</name></author></analytic><series><title level="j">Der Pathologe</title><idno type="ISSN">0172-8113</idno><imprint><date when="2003" type="published">2003</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Adult</term><term>Fabry Disease (complications)</term><term>Fabry Disease (genetics)</term><term>Fabry Disease (pathology)</term><term>Female</term><term>Glomerulonephritis (complications)</term><term>Glomerulonephritis (genetics)</term><term>Glomerulonephritis (pathology)</term><term>Humans</term><term>Kidney Glomerulus (pathology)</term><term>Kidney Glomerulus (ultrastructure)</term><term>Male</term><term>Nephritis, Interstitial (complications)</term><term>Nephritis, Interstitial (genetics)</term><term>Nephritis, Interstitial (pathology)</term><term>Nuclear Family</term></keywords><keywords scheme="MESH" qualifier="complications" xml:lang="en"><term>Fabry Disease</term><term>Glomerulonephritis</term><term>Nephritis, Interstitial</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Fabry Disease</term><term>Glomerulonephritis</term><term>Nephritis, Interstitial</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Fabry Disease</term><term>Glomerulonephritis</term><term>Kidney Glomerulus</term><term>Nephritis, Interstitial</term></keywords><keywords scheme="MESH" qualifier="ultrastructure" xml:lang="en"><term>Kidney Glomerulus</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Adult</term><term>Female</term><term>Humans</term><term>Male</term><term>Nuclear Family</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">A 26-year-old female patient was admitted to the hospital because of fever of unknown origin and renal failure. Diagnosis of Fabry's disease, extracapillary proliferative (crescentic) glomerulonephritis and granulomatous interstitial nephritis was made by histological, immunohistochemical and electron microscopical diagnosis in a kidney biopsy and confirmed by further investigations. Years ago the brother of the patient had a kidney biopsy diagnosed as metabolic disease. The re-evaluation of this biopsy confirmed Fabry's disease while in this patient an association with tubulointerstitial nephritis occurred. To our knowledge this is the first family with two members having Fabry's disease combined with further kidney diseases.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">14605848</PMID><DateCreated><Year>2003</Year><Month>11</Month><Day>07</Day></DateCreated><DateCompleted><Year>2004</Year><Month>01</Month><Day>21</Day></DateCompleted><DateRevised><Year>2009</Year><Month>11</Month><Day>03</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Print">0172-8113</ISSN><JournalIssue CitedMedium="Print"><Volume>24</Volume><Issue>6</Issue><PubDate><Year>2003</Year><Month>Oct</Month></PubDate></JournalIssue><Title>Der Pathologe</Title><ISOAbbreviation>Pathologe</ISOAbbreviation></Journal><ArticleTitle>[Fabry's disease, glomerulonephritis with crescentic and granulomatous interstitial nephritis. Case of one family].</ArticleTitle><Pagination><MedlinePgn>439-43</MedlinePgn></Pagination><Abstract><AbstractText>A 26-year-old female patient was admitted to the hospital because of fever of unknown origin and renal failure. Diagnosis of Fabry's disease, extracapillary proliferative (crescentic) glomerulonephritis and granulomatous interstitial nephritis was made by histological, immunohistochemical and electron microscopical diagnosis in a kidney biopsy and confirmed by further investigations. Years ago the brother of the patient had a kidney biopsy diagnosed as metabolic disease. The re-evaluation of this biopsy confirmed Fabry's disease while in this patient an association with tubulointerstitial nephritis occurred. To our knowledge this is the first family with two members having Fabry's disease combined with further kidney diseases.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Kriegsmann</LastName><ForeName>J</ForeName><Initials>J</Initials><AffiliationInfo><Affiliation>Gemeinschaftspraxis für Pathologie, Trier. kriegsmann@patho-trier.de</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Otto</LastName><ForeName>M</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Wandel</LastName><ForeName>E</ForeName><Initials>E</Initials></Author><Author ValidYN="Y"><LastName>Schwarting</LastName><ForeName>A</ForeName><Initials>A</Initials></Author><Author ValidYN="Y"><LastName>Faust</LastName><ForeName>J</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Hansen</LastName><ForeName>T</ForeName><Initials>T</Initials></Author><Author ValidYN="Y"><LastName>Beck</LastName><ForeName>J</ForeName><Initials>J</Initials></Author><Author ValidYN="Y"><LastName>Whybra</LastName><ForeName>C</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Beck</LastName><ForeName>M</ForeName><Initials>M</Initials></Author></AuthorList><Language>ger</Language><PublicationTypeList><PublicationType UI="D002363">Case Reports</PublicationType><PublicationType UI="D004740">English Abstract</PublicationType><PublicationType UI="D016428">Journal Article</PublicationType></PublicationTypeList><VernacularTitle>Morbus Fabry, Glomerulonephritis mit Halbmondbildung und granulomatöse interstitielle NephritisBericht über eine Familie.</VernacularTitle></Article><MedlineJournalInfo><Country>Germany</Country><MedlineTA>Pathologe</MedlineTA><NlmUniqueID>8006541</NlmUniqueID><ISSNLinking>0172-8113</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000328" MajorTopicYN="N">Adult</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000795" MajorTopicYN="N">Fabry Disease</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005921" MajorTopicYN="N">Glomerulonephritis</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="Y">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007678" MajorTopicYN="N">Kidney Glomerulus</DescriptorName><QualifierName UI="Q000473" MajorTopicYN="Y">pathology</QualifierName><QualifierName UI="Q000648" MajorTopicYN="N">ultrastructure</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009395" MajorTopicYN="N">Nephritis, Interstitial</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="N">complications</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="Y">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D009679" MajorTopicYN="N">Nuclear Family</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="pubmed"><Year>2003</Year><Month>11</Month><Day>8</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2004</Year><Month>1</Month><Day>22</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2003</Year><Month>11</Month><Day>8</Day><Hour>5</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">14605848</ArticleId><ArticleId IdType="doi">10.1007/s00292-003-0659-0</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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