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Article: Epstein syndrome presenting as renal failure in young patients

TitleEpstein syndrome presenting as renal failure in young patients
Authors
Yap, DYHTse, KCChan, TMLie, AKW
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?
DOI: http://dx.doi.org/10.1080/08860220903033708
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
0886-022X
2021 Impact Factor: 3.222
2020 SCImago Journal Rankings: 0.674
ISI Accession Number ID
WOS:000271014900009
References
References in Scopus

 

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
dc.identifier.issnl0886-022X-

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