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Article: Circulating fluorocytes at the first attack of acute intermittent porphyria: A missing link in the pathogenesis
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TitleCirculating fluorocytes at the first attack of acute intermittent porphyria: A missing link in the pathogenesis
 
AuthorsLam, CW1
Lau, KC1
Mak, CM2
Tsang, MW3
Chan, YW2
 
KeywordsBiomarkers
Circulating fluorescent red cells
Porphyria
 
Issue Date2011
 
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
 
CitationClinica Chimica Acta, 2011, v. 412 n. 1-2, p. 208-212 [How to Cite?]
DOI: http://dx.doi.org/10.1016/j.cca.2010.09.005
 
AbstractBackground: Acute intermittent porphyria (AIP) is an autosomal dominant disorder of the haem biosynthesis resulting from a partial deficiency of hydroxymethylbilane synthase (HMBS) with incomplete penetrance. By conventional means, it is able to identify asymptomatic mutation carrier by molecular diagnosis, but one cannot reliably predict an acute porphyric attack. The presence of fluorescent red cells (fluorocytes) in AIP is probably under-recognized since AIP is a hepatic porphyria and not associated with photosensitivity. Methods: We used an automatic image acquisition platform to detect the circulating fluorocytes at 700 nm emission in a diabetic AIP patient during acute attack. We screened the patient and her family members for the mutation on HMBS, urine porphobilinogen and circulating fluorocytes. Results: The patient was heterozygous for a disease-causing mutation on HMBS and several bright circulating fluorocytes were detected. We showed evidence that protoporphyrin contributed to the erythrocyte auto-fluorescence. Interestingly, asymptomatic mutation carriers with increased urine porphobilinogen did not have circulating fluorocytes. All mutation-negative family members revealed no circulating fluorocytes. Conclusion: Sudden decrease in plasma glucose concentration might invoke acute attack of AIP and appearance of circulatory fluorocytes. Potential of detecting fluorocytes as screening test or for predicting an acute attack of AIP in diabetes is worth investigating. © 2010 Elsevier B.V.
 
ISSN0009-8981
2013 Impact Factor: 2.764
2013 SCImago Journal Rankings: 1.039
 
DOIhttp://dx.doi.org/10.1016/j.cca.2010.09.005
 
ISI Accession Number IDWOS:000285655700037
 
ReferencesReferences in Scopus
 
DC FieldValue
dc.contributor.authorLam, CW
 
dc.contributor.authorLau, KC
 
dc.contributor.authorMak, CM
 
dc.contributor.authorTsang, MW
 
dc.contributor.authorChan, YW
 
dc.date.accessioned2011-09-23T06:01:47Z
 
dc.date.available2011-09-23T06:01:47Z
 
dc.date.issued2011
 
dc.description.abstractBackground: Acute intermittent porphyria (AIP) is an autosomal dominant disorder of the haem biosynthesis resulting from a partial deficiency of hydroxymethylbilane synthase (HMBS) with incomplete penetrance. By conventional means, it is able to identify asymptomatic mutation carrier by molecular diagnosis, but one cannot reliably predict an acute porphyric attack. The presence of fluorescent red cells (fluorocytes) in AIP is probably under-recognized since AIP is a hepatic porphyria and not associated with photosensitivity. Methods: We used an automatic image acquisition platform to detect the circulating fluorocytes at 700 nm emission in a diabetic AIP patient during acute attack. We screened the patient and her family members for the mutation on HMBS, urine porphobilinogen and circulating fluorocytes. Results: The patient was heterozygous for a disease-causing mutation on HMBS and several bright circulating fluorocytes were detected. We showed evidence that protoporphyrin contributed to the erythrocyte auto-fluorescence. Interestingly, asymptomatic mutation carriers with increased urine porphobilinogen did not have circulating fluorocytes. All mutation-negative family members revealed no circulating fluorocytes. Conclusion: Sudden decrease in plasma glucose concentration might invoke acute attack of AIP and appearance of circulatory fluorocytes. Potential of detecting fluorocytes as screening test or for predicting an acute attack of AIP in diabetes is worth investigating. © 2010 Elsevier B.V.
 
dc.description.natureLink_to_subscribed_fulltext
 
dc.identifier.citationClinica Chimica Acta, 2011, v. 412 n. 1-2, p. 208-212 [How to Cite?]
DOI: http://dx.doi.org/10.1016/j.cca.2010.09.005
 
dc.identifier.citeulike7887345
 
dc.identifier.doihttp://dx.doi.org/10.1016/j.cca.2010.09.005
 
dc.identifier.epage212
 
dc.identifier.hkuros192468
 
dc.identifier.isiWOS:000285655700037
 
dc.identifier.issn0009-8981
2013 Impact Factor: 2.764
2013 SCImago Journal Rankings: 1.039
 
dc.identifier.issue1-2
 
dc.identifier.openurl
 
dc.identifier.pmid20850424
 
dc.identifier.scopuseid_2-s2.0-78650514169
 
dc.identifier.spage208
 
dc.identifier.urihttp://hdl.handle.net/10722/139931
 
dc.identifier.volume412
 
dc.languageeng
 
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
 
dc.publisher.placeNetherlands
 
dc.relation.ispartofClinica Chimica Acta
 
dc.relation.referencesReferences in Scopus
 
dc.subject.meshDNA Mutational Analysis
 
dc.subject.meshErythrocytes - metabolism
 
dc.subject.meshFluorescent Dyes - metabolism
 
dc.subject.meshHydroxymethylbilane Synthase - genetics
 
dc.subject.meshPorphyria, Acute Intermittent - blood - enzymology - genetics - pathology
 
dc.subjectBiomarkers
 
dc.subjectCirculating fluorescent red cells
 
dc.subjectPorphyria
 
dc.titleCirculating fluorocytes at the first attack of acute intermittent porphyria: A missing link in the pathogenesis
 
dc.typeArticle
 
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Author Affiliations
  1. The University of Hong Kong
  2. Princess Margaret Hospital Hong Kong
  3. United Christian Hospital Hong Kong