2.50
Hdl Handle:
http://hdl.handle.net/2336/3763
Title:
Arfgengur skortur á storkuþætti VII í íslenskri fjölskyldu
Other Titles:
Congenital deficiency of coagulation factor VII in an Icelandic family
Authors:
Vigfús Þorsteinsson; Sigmundur Magnússon; Soili Hellman-Erlingsson; Brynja R. Guðmundsdóttir; Alfreð Árnason
Citation:
Læknablaðið 2004, 90(5):385-388
Issue Date:
1-May-2004
Abstract:
Congenital deficiency of coagulation factor VII is a rare autosomal and usually recessive genetic bleeding disorder which has been discovered in an Icelandic family. The propositus is a male who experienced intermittent painful inflammation of his ankle joints at the age of 9-10 and later also in his knees, elbow, shoulder, and wrist. Smaller joints were spared, serologies for rheumatoid disease were negative. He was treated for rheumatoid arthritis with limited results and became practically invalid due to his arthritis at the age of 40. At the age of 57, a surgical synovectomy of his knee joint was complicated by postoperative bleeding, and signs of chronic haemorrhagic arthritis were noted in the synovia. Subsequently, a marked prolongation of his prothrombin time and a near total deficiency of coagulation factor VII were discovered. All of his nine siblings were deficient in coagulation factor VII, three of them markedly deficient like the proband and six moderetely deficient. The pattern of inheritance suggests that one of their parents was heterozygous and the other homozygous or doubly heterozygous of genetic deficiency of coagulation factor VII. The parents were second cousins. Of the siblings, only the propositus had a bleeding tendency or arthritis. No evidence of such symptoms in their parents or grandparents was found. This family is the only Icelandic family with congenital deficiency of coagulation factor VII known to the authors.; Lýst er sjaldgæfum blæðingasjúkdómi, ættgengum skorti á storkuþætti VII, í íslenskri fjölskyldu. Sjúkdómurinn erfist ókynbundið og yfirleitt víkjandi þannig að einkenni koma sjaldan fram nema þegar báðir erfðastofnarnir sem tjá storkuþátt VII eru gallaðir og mikill skortur er á storkuþætti VII. Tíu systkini reyndust öll hafa skort á storkuþætti VII. Fjögur höfðu skort á háu stigi og voru þess vegna sennilega með galla í báðum erfðastofnunum. Sex höfðu miðlungsskort og voru því sennilega með annan erfðastofninn eðlilegan en hinn gallaðan. Þetta bendir til þess að annað foreldri þeirra hafi haft galla í báðum erfðastofnum sínum en hitt aðeins í öðrum. Foreldrar þeirra voru þremenningar að skyldleika. Aðeins eitt af systkinunum hafði staðfesta blæðingahneigð. Það var karlmaður sem fékk endurteknar liðblæðingar frá barnsaldri og varð að lokum óvinnufær vegna liðskemmda. Ekkert af hinum systkinunum hafði greinileg merki um blæðingahneigð og engar sagnir voru um blæðingahneigð hjá forfeðrum eða formæðrum þeirra. Höfundum er ekki kunnugt um að þessi sjúkdómur hafi fundist hjá öðrum Íslendingum.
Description:
Neðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/Open
Additional Links:
http://www.laeknabladid.is

Full metadata record

DC FieldValue Language
dc.contributor.authorVigfús Þorsteinsson-
dc.contributor.authorSigmundur Magnússon-
dc.contributor.authorSoili Hellman-Erlingsson-
dc.contributor.authorBrynja R. Guðmundsdóttir-
dc.contributor.authorAlfreð Árnason-
dc.date.accessioned2006-08-08T11:17:30Z-
dc.date.available2006-08-08T11:17:30Z-
dc.date.issued2004-05-01-
dc.identifier.citationLæknablaðið 2004, 90(5):385-388en
dc.identifier.issn0023-7213-
dc.identifier.pmid16819033-
dc.identifier.urihttp://hdl.handle.net/2336/3763-
dc.descriptionNeðst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn View/Openis
dc.description.abstractCongenital deficiency of coagulation factor VII is a rare autosomal and usually recessive genetic bleeding disorder which has been discovered in an Icelandic family. The propositus is a male who experienced intermittent painful inflammation of his ankle joints at the age of 9-10 and later also in his knees, elbow, shoulder, and wrist. Smaller joints were spared, serologies for rheumatoid disease were negative. He was treated for rheumatoid arthritis with limited results and became practically invalid due to his arthritis at the age of 40. At the age of 57, a surgical synovectomy of his knee joint was complicated by postoperative bleeding, and signs of chronic haemorrhagic arthritis were noted in the synovia. Subsequently, a marked prolongation of his prothrombin time and a near total deficiency of coagulation factor VII were discovered. All of his nine siblings were deficient in coagulation factor VII, three of them markedly deficient like the proband and six moderetely deficient. The pattern of inheritance suggests that one of their parents was heterozygous and the other homozygous or doubly heterozygous of genetic deficiency of coagulation factor VII. The parents were second cousins. Of the siblings, only the propositus had a bleeding tendency or arthritis. No evidence of such symptoms in their parents or grandparents was found. This family is the only Icelandic family with congenital deficiency of coagulation factor VII known to the authors.en
dc.description.abstractLýst er sjaldgæfum blæðingasjúkdómi, ættgengum skorti á storkuþætti VII, í íslenskri fjölskyldu. Sjúkdómurinn erfist ókynbundið og yfirleitt víkjandi þannig að einkenni koma sjaldan fram nema þegar báðir erfðastofnarnir sem tjá storkuþátt VII eru gallaðir og mikill skortur er á storkuþætti VII. Tíu systkini reyndust öll hafa skort á storkuþætti VII. Fjögur höfðu skort á háu stigi og voru þess vegna sennilega með galla í báðum erfðastofnunum. Sex höfðu miðlungsskort og voru því sennilega með annan erfðastofninn eðlilegan en hinn gallaðan. Þetta bendir til þess að annað foreldri þeirra hafi haft galla í báðum erfðastofnum sínum en hitt aðeins í öðrum. Foreldrar þeirra voru þremenningar að skyldleika. Aðeins eitt af systkinunum hafði staðfesta blæðingahneigð. Það var karlmaður sem fékk endurteknar liðblæðingar frá barnsaldri og varð að lokum óvinnufær vegna liðskemmda. Ekkert af hinum systkinunum hafði greinileg merki um blæðingahneigð og engar sagnir voru um blæðingahneigð hjá forfeðrum eða formæðrum þeirra. Höfundum er ekki kunnugt um að þessi sjúkdómur hafi fundist hjá öðrum Íslendingum.is
dc.languageICEen
dc.language.isoisen
dc.publisherLæknafélag Íslands, Læknafélag Reykjavíkuren
dc.relation.urlhttp://www.laeknabladid.isen
dc.subjectErfðasjúkdómaren
dc.subjectBlæðingasjúkdómaren
dc.subjectBlóðstorknunen
dc.subjectBlóðrannsókniren
dc.subject.classificationLBL12en
dc.subject.classificationFræðigreinaren
dc.subject.meshBlood Coagulation Factorsen
dc.subject.meshFactor VII Deficiencyen
dc.titleArfgengur skortur á storkuþætti VII í íslenskri fjölskylduen
dc.title.alternativeCongenital deficiency of coagulation factor VII in an Icelandic familyen
dc.typeArticleen
dc.identifier.journalLæknablaðiðis
dc.format.digYES-

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