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Article: A characteristic dissection microscopy appearance of a renal biopsy of a Fabry heterozygote

TitleA characteristic dissection microscopy appearance of a renal biopsy of a Fabry heterozygote
Authors
Issue Date1997
PublisherS Karger AG. The Journal's web site is located at http://www.karger.com/NEF
Citation
Nephron, 1997, v. 77 n. 3, p. 354-356 How to Cite?
AbstractWe report a 15-year-old Fabry heterozygote presenting to us with asymptomatic proteinuria. During the dissection-microscopic examination, the glomeruli exhibited a characteristic swollen, glistening and white appearance. They were swollen and bulged out from the surface of the renal core. The glomerular tufts appeared to be filled with opaque and whitish material giving them a pale white discoloration. This appearance is due to the accumulation of glycosphingolipids in visceral epithelial cells of the kidney. This feature is important for the investigation of female patients with asymptomatic proteinuria, as in two thirds of Fabry heterozygotes the characteristic skin lesions are absent, and thus heterozygous Fabry disease may not be considered. We suggest that this easily demonstrable appearance can be the first evidence for the disease and pathologists should be aware of it in future.
Persistent Identifierhttp://hdl.handle.net/10722/148066
ISSN
2004 Impact Factor: 1.462
2006 SCImago Journal Rankings: 0.715
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorYuen, NWFen_US
dc.contributor.authorLam, CWen_US
dc.contributor.authorChow, TCen_US
dc.contributor.authorChiu, MCen_US
dc.date.accessioned2012-05-29T06:10:40Z-
dc.date.available2012-05-29T06:10:40Z-
dc.date.issued1997en_US
dc.identifier.citationNephron, 1997, v. 77 n. 3, p. 354-356en_US
dc.identifier.issn0028-2766en_US
dc.identifier.urihttp://hdl.handle.net/10722/148066-
dc.description.abstractWe report a 15-year-old Fabry heterozygote presenting to us with asymptomatic proteinuria. During the dissection-microscopic examination, the glomeruli exhibited a characteristic swollen, glistening and white appearance. They were swollen and bulged out from the surface of the renal core. The glomerular tufts appeared to be filled with opaque and whitish material giving them a pale white discoloration. This appearance is due to the accumulation of glycosphingolipids in visceral epithelial cells of the kidney. This feature is important for the investigation of female patients with asymptomatic proteinuria, as in two thirds of Fabry heterozygotes the characteristic skin lesions are absent, and thus heterozygous Fabry disease may not be considered. We suggest that this easily demonstrable appearance can be the first evidence for the disease and pathologists should be aware of it in future.en_US
dc.languageengen_US
dc.publisherS Karger AG. The Journal's web site is located at http://www.karger.com/NEFen_US
dc.relation.ispartofNephronen_US
dc.subject.meshAdolescenten_US
dc.subject.meshBiopsyen_US
dc.subject.meshEpithelial Cells - Ultrastructureen_US
dc.subject.meshFabry Disease - Complications - Genetics - Pathologyen_US
dc.subject.meshFemaleen_US
dc.subject.meshHeterozygoteen_US
dc.subject.meshHumansen_US
dc.subject.meshKidney Glomerulus - Pathology - Ultrastructureen_US
dc.subject.meshMicroscopy, Electron, Scanningen_US
dc.subject.meshProteinuria - Etiologyen_US
dc.subject.meshUrine - Cytologyen_US
dc.titleA characteristic dissection microscopy appearance of a renal biopsy of a Fabry heterozygoteen_US
dc.typeArticleen_US
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_US
dc.identifier.authorityLam, CW=rp00260en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.pmid9375832-
dc.identifier.scopuseid_2-s2.0-0030660461en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-0030660461&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume77en_US
dc.identifier.issue3en_US
dc.identifier.spage354en_US
dc.identifier.epage356en_US
dc.identifier.isiWOS:A1997YD27700017-
dc.publisher.placeSwitzerlanden_US

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