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Article: Epstein syndrome presenting as renal failure in young patients

TitleEpstein syndrome presenting as renal failure in young patients
Authors
KeywordsEpstein Syndrome
Renal failure
Thrombocytopenia
Issue Date2009
PublisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/0886022x.asp
Citation
Renal Failure, 2009, v. 31 n. 7, p. 582-585 How to Cite?
AbstractTwo young Chinese patients presented with renal failure and thrombocytopenia. Further investigations showed the presence of large platelets and high-frequency sensorineural hearing deficit. Genetic studies confirmed mutations in the gene encoding the myosin heavy chain (MYH-9), and Epstein Syndrome was diagnosed. One patient underwent deceased-donor kidney transplantation with satisfactory graft function. Epstein Syndrome is a rare genetic disorder with autosomal dominant inheritance. Clinicians should be aware of this entity when a young patient presents with renal failure and thrombocytopenia. © 2009 Informa UK Ltd All rights reserved.
Persistent Identifierhttp://hdl.handle.net/10722/125054
ISSN
2015 Impact Factor: 0.875
2015 SCImago Journal Rankings: 0.471
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorYap, DYHen_HK
dc.contributor.authorTse, KCen_HK
dc.contributor.authorChan, TMen_HK
dc.contributor.authorLie, AKWen_HK
dc.date.accessioned2010-10-31T11:08:51Z-
dc.date.available2010-10-31T11:08:51Z-
dc.date.issued2009en_HK
dc.identifier.citationRenal Failure, 2009, v. 31 n. 7, p. 582-585en_HK
dc.identifier.issn0886-022Xen_HK
dc.identifier.urihttp://hdl.handle.net/10722/125054-
dc.description.abstractTwo young Chinese patients presented with renal failure and thrombocytopenia. Further investigations showed the presence of large platelets and high-frequency sensorineural hearing deficit. Genetic studies confirmed mutations in the gene encoding the myosin heavy chain (MYH-9), and Epstein Syndrome was diagnosed. One patient underwent deceased-donor kidney transplantation with satisfactory graft function. Epstein Syndrome is a rare genetic disorder with autosomal dominant inheritance. Clinicians should be aware of this entity when a young patient presents with renal failure and thrombocytopenia. © 2009 Informa UK Ltd All rights reserved.en_HK
dc.languageengen_HK
dc.publisherInforma Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/0886022x.aspen_HK
dc.relation.ispartofRenal Failureen_HK
dc.rightsRenal Failure. Copyright © Informa Healthcare.-
dc.subjectEpstein Syndromeen_HK
dc.subjectRenal failureen_HK
dc.subjectThrombocytopeniaen_HK
dc.subject.meshHearing Loss, Sensorineural - diagnosis - genetics-
dc.subject.meshKidney Transplantation - methods-
dc.subject.meshMyosin Heavy Chains - genetics-
dc.subject.meshRenal Insufficiency - diagnosis - genetics - surgery-
dc.subject.meshThrombocytopenia - diagnosis - genetics-
dc.titleEpstein syndrome presenting as renal failure in young patientsen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0886-022X&volume=31&issue=7&spage=582&epage=585&date=2009&atitle=Epstein+syndrome+presenting+as+renal+failure+in+young+patientsen_HK
dc.identifier.emailYap, DYH:desmondy@hku.hken_HK
dc.identifier.emailChan, TM:dtmchan@hku.hken_HK
dc.identifier.authorityYap, DYH=rp01607en_HK
dc.identifier.authorityChan, TM=rp00394en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1080/08860220903033708en_HK
dc.identifier.pmid19839854-
dc.identifier.scopuseid_2-s2.0-72649103820en_HK
dc.identifier.hkuros180730en_HK
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-72649103820&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume31en_HK
dc.identifier.issue7en_HK
dc.identifier.spage582en_HK
dc.identifier.epage585en_HK
dc.identifier.isiWOS:000271014900009-
dc.publisher.placeUnited Statesen_HK
dc.identifier.scopusauthoridYap, DYH=25958532000en_HK
dc.identifier.scopusauthoridTse, KC=7102609864en_HK
dc.identifier.scopusauthoridChan, TM=7402687700en_HK
dc.identifier.scopusauthoridLie, AKW=24284842400en_HK

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