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Article: Circulating fluorocytes at the first attack of acute intermittent porphyria: A missing link in the pathogenesis

TitleCirculating fluorocytes at the first attack of acute intermittent porphyria: A missing link in the pathogenesis
Authors
KeywordsBiomarkers
Circulating fluorescent red cells
Porphyria
Issue Date2011
PublisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/cca
Citation
Clinica Chimica Acta, 2011, v. 412 n. 1-2, p. 208-212 How to Cite?
Abstract
Background: 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.
Persistent Identifierhttp://hdl.handle.net/10722/139931
ISSN
2013 Impact Factor: 2.764
2013 SCImago Journal Rankings: 1.039
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorLam, CWen_HK
dc.contributor.authorLau, KCen_HK
dc.contributor.authorMak, CMen_HK
dc.contributor.authorTsang, MWen_HK
dc.contributor.authorChan, YWen_HK
dc.date.accessioned2011-09-23T06:01:47Z-
dc.date.available2011-09-23T06:01:47Z-
dc.date.issued2011en_HK
dc.identifier.citationClinica Chimica Acta, 2011, v. 412 n. 1-2, p. 208-212en_HK
dc.identifier.issn0009-8981en_HK
dc.identifier.urihttp://hdl.handle.net/10722/139931-
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.en_HK
dc.languageengen_US
dc.publisherElsevier BV. The Journal's web site is located at http://www.elsevier.com/locate/ccaen_HK
dc.relation.ispartofClinica Chimica Actaen_HK
dc.subjectBiomarkersen_HK
dc.subjectCirculating fluorescent red cellsen_HK
dc.subjectPorphyriaen_HK
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.titleCirculating fluorocytes at the first attack of acute intermittent porphyria: A missing link in the pathogenesisen_HK
dc.typeArticleen_HK
dc.identifier.openurlhttp://library.hku.hk:4550/resserv?sid=HKU:IR&issn=0009-8981&volume=412&issue=1-2&spage=208&epage=212&date=2011&atitle=Circulating+fluorocytes+at+the+first+attack+of+acute+intermittent+porphyria:+a+missing+link+in+the+pathogenesis-
dc.identifier.emailLam, CW:ching-wanlam@pathology.hku.hken_HK
dc.identifier.authorityLam, CW=rp00260en_HK
dc.description.naturelink_to_subscribed_fulltext-
dc.identifier.doi10.1016/j.cca.2010.09.005en_HK
dc.identifier.pmid20850424en_HK
dc.identifier.scopuseid_2-s2.0-78650514169en_HK
dc.identifier.hkuros192468en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-78650514169&selection=ref&src=s&origin=recordpageen_HK
dc.identifier.volume412en_HK
dc.identifier.issue1-2en_HK
dc.identifier.spage208en_HK
dc.identifier.epage212en_HK
dc.identifier.isiWOS:000285655700037-
dc.publisher.placeNetherlandsen_HK
dc.identifier.citeulike7887345-

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