Severe thrombophilia in a paediatric patient with end-stage renal disease: Detection of the prothrombin gene G20210A mutation

Nephrology Dialysis Transplantation

Volumn 13, Issue 8, 1998, Pages 2130-2132

  Stier, Christian ^a,c   Pötzsch, Bernd ^b   Müller Berghaus, Gert ^b   Soergel, Marianne ^a   Klaus, Günter ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b MAX PLANCK INSTITUTE FOR HEART AND LUNG RESEARCH   (Germany)

^c MZ Kinderheilkunde   (Germany)

Author keywords

End stage renal disease; G20210A mutation; Thrombophilia

Indexed keywords

HEPARIN; PROTHROMBIN;

ARTICLE; CASE REPORT; CHILD; CONTROLLED STUDY; FEMALE; GENE MUTATION; GENETIC RISK; HEMODIALYSIS; HUMAN; HUMAN CELL; INTERSTITIAL NEPHRITIS; KIDNEY FAILURE; KIDNEY FUNCTION; KIDNEY TRANSPLANTATION; PHYSICAL EXAMINATION; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; THROMBOPHILIA; URINALYSIS;

CHILD; FEMALE; HUMANS; KIDNEY FAILURE, CHRONIC; KIDNEY TRANSPLANTATION; MUTATION; PROTHROMBIN; RENAL DIALYSIS; THROMBOPHILIA;

EID: 0031871649     PISSN: 09310509     EISSN: None     Source Type: Journal    
DOI: 10.1093/ndt/13.8.2130     Document Type: Article

References (8)

1. Tomura S, Nakamura Y, Deguchi F, Ando R, Chida Y, Marumo F. Coagulation and fibrinolysis in patients with chronic renal failure undergoing conservative treatment. Thromb Res 1991; 64: 81-90
2. Ambühl PM, Wüthrich RP, Korte W, Schmid L, Krapf R. Plasma hypercoagulability in haemodialysis patients: impact of dialysis and anticoagulation. Nephrol Dial Transplant 1997; 12: 2355-2364
3. Oh J, Kreuz W, Nowak-Göttel U, Tönshoff B, Schaefer F, Mehls O. Prothrombingen-Mutation als Ursache einer fulminanten Thrombose bei Nierentransplantation. Monatszeitschr Kinderheilkunde 1998; 2: 178 (abstract)
4. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. Common genetic variation in the 3′-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood 1996, (88): 3698-3703
5. Millar SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from nucleated cell. Nucleic Acids Res 1988; 16: 1215-1217
6. Makris M, Preston FE, Beauchamp NJ et al. Co-inheritance of the 20210A allele of the prothrombin gene increases the risk of thrombosis in subjects with familial thrombophilia. Thromb Haemost 1997; 78: 1426-1429
7. Howard TE, Marusa M, Channell C, Duncan AA. Patient homozygous for a mutation in the prothromin gene 3′-untranslated region associated with massive thrombosis. Blood Coagul Fibinolysis 1997; 8: 316-319
8. Cumming AM, Keeney S, Salden A, Bhavnani M, Shwe KH, Hay CR. The prothrombin gene G20210A variant: prevalence in a U.K. anticoagulant clinic population. Br J Haematol 1997; 98: 353-355