title: [Incidence of thrombophilic factor V Leiden and prothrombin G20210A mutation in Perthes disease--a pilot study].
abstract: OBJECTIVE
  Thrombophilic mutations may play a role in the pathogenesis of the juvenile osteonecrosis of the femoral head, Perthes' disease. We investigated whether children with Perthes' disease have an increased incidence of mutations of factor V (Leiden) and prothrombin (G2O210A), which predispose to thrombosis.
  
  
  METHODS
  For this pilot study, we analysed the data of twenty consecutive children (16 boys, 4 girls, mean age at diagnosis 6.4 years). According to Catterall's classification of severity, 2 children were in group 1, 7 in group 2, 8 in group 3, and 3 were in the most severe group 4. Mutations of factor V and prothrombin were identified in EDTA-blood by PCR amplification, digestion with restriction enzymes, and gel electrophoresis.
  
  
  RESULTS
  Heterozygoty for the factor V mutation was detected in two children, for the prothrombin mutation in one child. Both results did not differ significantly from the incidence in Germany, which is 0.05 for factor V mutations and 0.04 for prothrombin mutations.
  
  
  CONCLUSIONS
  For the presented group of children with Perthes' disease, we did not find an increased rate of factor V or prothrombin mutations compared to the natural incidence. In accordance to other recent studies, our results do not support a link between inherited thrombophilic mutations and Perthes' disease.
authors.affiliation: Klinik und Poliklinik für Orthopädie, Rheinischen Friedrich-Wilhelms-Universität Bonn. a.schmitz@uni-bonn.de
authors.forename: A
authors.initials: A
authors.lastname: Schmitz
authors.forename: J
authors.initials: J
authors.lastname: Pförtner
authors.forename: A
authors.initials: A
authors.lastname: Protzel
authors.forename: U
authors.initials: U
authors.lastname: Harbrecht
mesh_terms: D000483:Alleles; D002648:Child; D002675:Child, Preschool; D005165:Factor V / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005858:Germany; D006801:Humans; D015994:Incidence; D007873:Legg-Calve-Perthes Disease / Q000097:blood / Q000235:genetics* / Q000601:surgery; D008297:Male; D009154:Mutation / Q000235:genetics*; D010865:Pilot Projects; D016133:Polymerase Chain Reaction; D011516:Prothrombin / Q000235:genetics*; D019851:Thrombophilia / Q000097:blood / Q000235:genetics*
chemical_list: C095381:factor V Leiden; D005165:Factor V; D011516:Prothrombin