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- Publisher Website: 10.1080/08860220903033708
- Scopus: eid_2-s2.0-72649103820
- PMID: 19839854
- WOS: WOS:000271014900009
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Article: Epstein syndrome presenting as renal failure in young patients
Title | Epstein syndrome presenting as renal failure in young patients |
---|---|
Authors | |
Keywords | Epstein Syndrome Renal failure Thrombocytopenia |
Issue Date | 2009 |
Publisher | Informa 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? |
Abstract | Two 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 Identifier | http://hdl.handle.net/10722/125054 |
ISSN | 2023 Impact Factor: 3.0 2023 SCImago Journal Rankings: 0.727 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Yap, DYH | en_HK |
dc.contributor.author | Tse, KC | en_HK |
dc.contributor.author | Chan, TM | en_HK |
dc.contributor.author | Lie, AKW | en_HK |
dc.date.accessioned | 2010-10-31T11:08:51Z | - |
dc.date.available | 2010-10-31T11:08:51Z | - |
dc.date.issued | 2009 | en_HK |
dc.identifier.citation | Renal Failure, 2009, v. 31 n. 7, p. 582-585 | en_HK |
dc.identifier.issn | 0886-022X | en_HK |
dc.identifier.uri | http://hdl.handle.net/10722/125054 | - |
dc.description.abstract | Two 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.language | eng | en_HK |
dc.publisher | Informa Healthcare. The Journal's web site is located at http://www.tandf.co.uk/journals/titles/0886022x.asp | en_HK |
dc.relation.ispartof | Renal Failure | en_HK |
dc.rights | Renal Failure. Copyright © Informa Healthcare. | - |
dc.subject | Epstein Syndrome | en_HK |
dc.subject | Renal failure | en_HK |
dc.subject | Thrombocytopenia | en_HK |
dc.subject.mesh | Hearing Loss, Sensorineural - diagnosis - genetics | - |
dc.subject.mesh | Kidney Transplantation - methods | - |
dc.subject.mesh | Myosin Heavy Chains - genetics | - |
dc.subject.mesh | Renal Insufficiency - diagnosis - genetics - surgery | - |
dc.subject.mesh | Thrombocytopenia - diagnosis - genetics | - |
dc.title | Epstein syndrome presenting as renal failure in young patients | en_HK |
dc.type | Article | en_HK |
dc.identifier.openurl | http://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+patients | en_HK |
dc.identifier.email | Yap, DYH:desmondy@hku.hk | en_HK |
dc.identifier.email | Chan, TM:dtmchan@hku.hk | en_HK |
dc.identifier.authority | Yap, DYH=rp01607 | en_HK |
dc.identifier.authority | Chan, TM=rp00394 | en_HK |
dc.description.nature | link_to_subscribed_fulltext | - |
dc.identifier.doi | 10.1080/08860220903033708 | en_HK |
dc.identifier.pmid | 19839854 | - |
dc.identifier.scopus | eid_2-s2.0-72649103820 | en_HK |
dc.identifier.hkuros | 180730 | en_HK |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-72649103820&selection=ref&src=s&origin=recordpage | en_HK |
dc.identifier.volume | 31 | en_HK |
dc.identifier.issue | 7 | en_HK |
dc.identifier.spage | 582 | en_HK |
dc.identifier.epage | 585 | en_HK |
dc.identifier.isi | WOS:000271014900009 | - |
dc.publisher.place | United States | en_HK |
dc.identifier.scopusauthorid | Yap, DYH=25958532000 | en_HK |
dc.identifier.scopusauthorid | Tse, KC=7102609864 | en_HK |
dc.identifier.scopusauthorid | Chan, TM=7402687700 | en_HK |
dc.identifier.scopusauthorid | Lie, AKW=24284842400 | en_HK |
dc.identifier.issnl | 0886-022X | - |