File Download

There are no files associated with this item.

  Links for fulltext
     (May Require Subscription)
Supplementary

Article: Clinical features and genetic analysis of a Chinese kindred with Fabry's disease

TitleClinical features and genetic analysis of a Chinese kindred with Fabry's disease
Authors
Keywordsα-galactosidase A
Chinese
Fabry's disease
Genetic mutation
Issue Date2003
PublisherOxford University Press. The Journal's web site is located at http://ndt.oxfordjournals.org/
Citation
Nephrology Dialysis Transplantation, 2003, v. 18 n. 1, p. 182-186 How to Cite?
AbstractBackground. Fabry's disease is an X-linked recessive inborn error of glycosphingolipid catabolism resulting from deficient activity of lysosomal enzyme α-galactosidase A causing occlusive microvascular diseases affecting the kidney, heart, peripheral nerves and brain. It is an uncommon disease in the Oriental population. Methods and results. We report a Chinese kindred of Fabry's disease and the relevant clinical features are discussed. The diagnosis of Fabry's disease was based on serum α-galactosidase A activity and typical histological features from renal biopsy in the index patient. Genetic analysis of two hemizygous male patients revealed a missense mutation predicting a leucine to proline substitution (L14P) in the α-galactosidase gene causing classical Fabry's disease in this family. This is a novel point mutation not described previously in the literature and the second report describing novel genetic mutations for Fabry's disease in Chinese patients. Conclusions. Fabry's disease is rare in Chinese patients but this diagnosis should be considered in patients with positive family history of kidney disease and relevant clinical features.
Persistent Identifierhttp://hdl.handle.net/10722/148383
ISSN
2015 Impact Factor: 4.085
2015 SCImago Journal Rankings: 1.780
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorTse, KCen_HK
dc.contributor.authorChan, KWen_HK
dc.contributor.authorTin, VPCen_HK
dc.contributor.authorYip, PSen_HK
dc.contributor.authorTang, Sen_HK
dc.contributor.authorLi, FKen_HK
dc.contributor.authorHo, YWen_HK
dc.contributor.authorLai, KNen_HK
dc.contributor.authorChan, TMen_HK
dc.date.accessioned2012-05-29T06:12:38Z-
dc.date.available2012-05-29T06:12:38Z-
dc.date.issued2003en_HK
dc.identifier.citationNephrology Dialysis Transplantation, 2003, v. 18 n. 1, p. 182-186en_HK
dc.identifier.issn0931-0509en_HK
dc.identifier.urihttp://hdl.handle.net/10722/148383-
dc.description.abstractBackground. Fabry's disease is an X-linked recessive inborn error of glycosphingolipid catabolism resulting from deficient activity of lysosomal enzyme α-galactosidase A causing occlusive microvascular diseases affecting the kidney, heart, peripheral nerves and brain. It is an uncommon disease in the Oriental population. Methods and results. We report a Chinese kindred of Fabry's disease and the relevant clinical features are discussed. The diagnosis of Fabry's disease was based on serum α-galactosidase A activity and typical histological features from renal biopsy in the index patient. Genetic analysis of two hemizygous male patients revealed a missense mutation predicting a leucine to proline substitution (L14P) in the α-galactosidase gene causing classical Fabry's disease in this family. This is a novel point mutation not described previously in the literature and the second report describing novel genetic mutations for Fabry's disease in Chinese patients. Conclusions. Fabry's disease is rare in Chinese patients but this diagnosis should be considered in patients with positive family history of kidney disease and relevant clinical features.en_HK
dc.languageengen_US
dc.publisherOxford University Press. The Journal's web site is located at http://ndt.oxfordjournals.org/en_HK
dc.relation.ispartofNephrology Dialysis Transplantationen_HK
dc.subjectα-galactosidase Aen_HK
dc.subjectChineseen_HK
dc.subjectFabry's diseaseen_HK
dc.subjectGenetic mutationen_HK
dc.subject.meshAdulten_US
dc.subject.meshAsian Continental Ancestry Group - Geneticsen_US
dc.subject.meshBase Sequenceen_US
dc.subject.meshChinaen_US
dc.subject.meshChromosome Bandingen_US
dc.subject.meshChromosomes, Human, Xen_US
dc.subject.meshDna Primersen_US
dc.subject.meshExonsen_US
dc.subject.meshFabry Disease - Enzymology - Genetics - Physiopathologyen_US
dc.subject.meshFemaleen_US
dc.subject.meshHeterozygote Detectionen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshMiddle Ageden_US
dc.subject.meshPedigreeen_US
dc.subject.meshProteinuriaen_US
dc.subject.meshRenal Insufficiency - Etiologyen_US
dc.subject.meshAlpha-Galactosidase - Geneticsen_US
dc.titleClinical features and genetic analysis of a Chinese kindred with Fabry's diseaseen_HK
dc.typeArticleen_HK
dc.identifier.emailChan, KW: hrmtckw@hku.hken_HK
dc.identifier.emailTang, S: scwtang@hku.hken_HK
dc.identifier.emailLai, KN: knlai@hku.hken_HK
dc.identifier.emailChan, TM: dtmchan@hku.hken_HK
dc.identifier.authorityChan, KW=rp00330en_HK
dc.identifier.authorityTang, S=rp00480en_HK
dc.identifier.authorityLai, KN=rp00324en_HK
dc.identifier.authorityChan, TM=rp00394en_HK
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1093/ndt/18.1.182en_HK
dc.identifier.pmid12480979-
dc.identifier.scopuseid_2-s2.0-12244287665en_HK
dc.identifier.hkuros79063-
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-12244287665&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume18en_HK
dc.identifier.issue1en_HK
dc.identifier.spage182en_HK
dc.identifier.epage186en_HK
dc.identifier.isiWOS:000180293800030-
dc.publisher.placeUnited Kingdomen_HK
dc.identifier.scopusauthoridTse, KC=7102609864en_HK
dc.identifier.scopusauthoridChan, KW=16444133100en_HK
dc.identifier.scopusauthoridTin, VPC=36979743900en_HK
dc.identifier.scopusauthoridYip, PS=14219904600en_HK
dc.identifier.scopusauthoridTang, S=7403437082en_HK
dc.identifier.scopusauthoridLi, FK=8219093900en_HK
dc.identifier.scopusauthoridHo, YW=7402555047en_HK
dc.identifier.scopusauthoridLai, KN=7402135706en_HK
dc.identifier.scopusauthoridChan, TM=7402687700en_HK

Export via OAI-PMH Interface in XML Formats


OR


Export to Other Non-XML Formats