To investigate the exon mutation of vitamin K-dependent gamma-glutamyl carboxylase （GGCX or VKDC） in patients with calcium oxalate urolithasis, renal cortex and peripheral blood samples were obtained from severe hyd...To investigate the exon mutation of vitamin K-dependent gamma-glutamyl carboxylase （GGCX or VKDC） in patients with calcium oxalate urolithasis, renal cortex and peripheral blood samples were obtained from severe hydronephrosis patients （with or without calculi）, and renal tumor patients undergoing nephrectomy. GGCX mutations in all 15 exons were examined in 44 patients with calcium oxalate urolithiasis （COU） by polymerase chain reaction （PCR） and denatured high pressure liquid chromatography （DHPLC）, and confirmed by sequencing. Mutation was not found in all COU samples compared to the controls. These data demonstrated that functional GGCX mutations in all 15 exons do not occur in most COU patients. It was suggested that there may be no significant association between the low activity and mutation of GGCX in COU.展开更多
BACKGROUND： In adults, vitamin K-dependent coagulation factor deficiency （VKCFD） increases in the recent years. We treated a VKCFD patient with subarachnoid hemorrhage, with favorable outcomes.METHODS： A 19-year-o...BACKGROUND： In adults, vitamin K-dependent coagulation factor deficiency （VKCFD） increases in the recent years. We treated a VKCFD patient with subarachnoid hemorrhage, with favorable outcomes.METHODS： A 19-year-old male student with VKCFD was treated at our hospital. The initial treatment was injection of a large dose of vitamin K and fresh plasma, and then with oral high dose of vitamin K4.RESULTS： At 4 weeks after admission, the focus of hemorrhage subsided, neurological examination was normal, and the patient was discharged.CONCLUSIONS： VKCFD is rare and its diagnosis should be based on the history of the patient and the results of laboratory examinations. A large dose of vitamin K is the fi rst choice of treatment.展开更多
To study the activity of vitamin K-dependent γ-glutamyl carboxylase in patients with calcium oxalate (CaOx) urolithiasis compared with healthy individuals and to assess its relationship to the renal calcium oxalate u...To study the activity of vitamin K-dependent γ-glutamyl carboxylase in patients with calcium oxalate (CaOx) urolithiasis compared with healthy individuals and to assess its relationship to the renal calcium oxalate urolithiasis Methods Renal parenchymas were harvested from urolithic patients and renal tumor patients undergoing nephrectomy The renal carboxylase activity was evaluated as the radioactivity of [ 14 C] labeled sodium bicarbonate in carboxylic reactions in vitro using β-liquid scintillation counting Results Significantly reduced activity of renal vitamin K-dependent γ-glutamyl carboxylase was observed in the urolithic group as compared with normal controls (P<0 01) Conclusion It suggests that the reduced carboxylase activity observed in the urolithic patients may play an important role in the course of renal calcium oxalate urolithiasis展开更多
BACKGROUND Rheumatoid arthritis(RA)is a common chronic inflammatory autoimmune disease with the main clinical feature of progressive joint synovial inflammation,which can lead to joint deformities as well as disabilit...BACKGROUND Rheumatoid arthritis(RA)is a common chronic inflammatory autoimmune disease with the main clinical feature of progressive joint synovial inflammation,which can lead to joint deformities as well as disability.RA often causes damage to multiple organs and systems within the body,including the blood hemostasis system.Few reports have focused on acquired coagulation dysfunction resulting from vitamin K-dependent coagulation factor deficiency associated with RA.CASE SUMMARY A 64-year-old woman with a history of RA presented to our hospital,complaining of painless gross hematuria for 2 wk.Blood coagulation function tests showed increased prothrombin time,international normalized ratio,and activated partial thromboplastin time.Abnormal blood coagulation factor(F)activity was detected(FII,7.0%;FV,122.0%;and FX,6.0%),indicating vitamin K-dependent coagulation factor deficiency.Thromboelastography and an activated partial thromboplastin time mixed correction experiment also suggested decreased coagulation factor activity.Clinically,the patient was initially diagnosed with hematuria,RA,and vitamin K-dependent coagulation factor deficiency.The patient received daily intravenous administration of vitamin K120 mg,etamsylate 3 g,and vitamin C 3000 mg for 10 d.Concurrently,oral leflunomide tablets and prednisone were administered for treatment of RA.After the treatment,the patient's symptoms improved markedly and she was discharged on day 12.There were no hemorrhagic events during 18 mo of follow-up.CONCLUSION RA can result in vitamin K-dependent coagulation factor deficiency,which leads to acquired coagulation dysfunction.Vitamin K1 supplementation has an obvious effect on coagulation dysfunction under these circumstances.展开更多
文摘To investigate the exon mutation of vitamin K-dependent gamma-glutamyl carboxylase （GGCX or VKDC） in patients with calcium oxalate urolithasis, renal cortex and peripheral blood samples were obtained from severe hydronephrosis patients （with or without calculi）, and renal tumor patients undergoing nephrectomy. GGCX mutations in all 15 exons were examined in 44 patients with calcium oxalate urolithiasis （COU） by polymerase chain reaction （PCR） and denatured high pressure liquid chromatography （DHPLC）, and confirmed by sequencing. Mutation was not found in all COU samples compared to the controls. These data demonstrated that functional GGCX mutations in all 15 exons do not occur in most COU patients. It was suggested that there may be no significant association between the low activity and mutation of GGCX in COU.
文摘BACKGROUND： In adults, vitamin K-dependent coagulation factor deficiency （VKCFD） increases in the recent years. We treated a VKCFD patient with subarachnoid hemorrhage, with favorable outcomes.METHODS： A 19-year-old male student with VKCFD was treated at our hospital. The initial treatment was injection of a large dose of vitamin K and fresh plasma, and then with oral high dose of vitamin K4.RESULTS： At 4 weeks after admission, the focus of hemorrhage subsided, neurological examination was normal, and the patient was discharged.CONCLUSIONS： VKCFD is rare and its diagnosis should be based on the history of the patient and the results of laboratory examinations. A large dose of vitamin K is the fi rst choice of treatment.
基金TheworkwassupportedbyagrantfromtheNationalNaturalScienceFoundationofChina (No .3990 70 740 )
文摘To study the activity of vitamin K-dependent γ-glutamyl carboxylase in patients with calcium oxalate (CaOx) urolithiasis compared with healthy individuals and to assess its relationship to the renal calcium oxalate urolithiasis Methods Renal parenchymas were harvested from urolithic patients and renal tumor patients undergoing nephrectomy The renal carboxylase activity was evaluated as the radioactivity of [ 14 C] labeled sodium bicarbonate in carboxylic reactions in vitro using β-liquid scintillation counting Results Significantly reduced activity of renal vitamin K-dependent γ-glutamyl carboxylase was observed in the urolithic group as compared with normal controls (P<0 01) Conclusion It suggests that the reduced carboxylase activity observed in the urolithic patients may play an important role in the course of renal calcium oxalate urolithiasis
基金the National Natural Science Foundation of China,No.81803917 and 81904024.
文摘BACKGROUND Rheumatoid arthritis(RA)is a common chronic inflammatory autoimmune disease with the main clinical feature of progressive joint synovial inflammation,which can lead to joint deformities as well as disability.RA often causes damage to multiple organs and systems within the body,including the blood hemostasis system.Few reports have focused on acquired coagulation dysfunction resulting from vitamin K-dependent coagulation factor deficiency associated with RA.CASE SUMMARY A 64-year-old woman with a history of RA presented to our hospital,complaining of painless gross hematuria for 2 wk.Blood coagulation function tests showed increased prothrombin time,international normalized ratio,and activated partial thromboplastin time.Abnormal blood coagulation factor(F)activity was detected(FII,7.0%;FV,122.0%;and FX,6.0%),indicating vitamin K-dependent coagulation factor deficiency.Thromboelastography and an activated partial thromboplastin time mixed correction experiment also suggested decreased coagulation factor activity.Clinically,the patient was initially diagnosed with hematuria,RA,and vitamin K-dependent coagulation factor deficiency.The patient received daily intravenous administration of vitamin K120 mg,etamsylate 3 g,and vitamin C 3000 mg for 10 d.Concurrently,oral leflunomide tablets and prednisone were administered for treatment of RA.After the treatment,the patient's symptoms improved markedly and she was discharged on day 12.There were no hemorrhagic events during 18 mo of follow-up.CONCLUSION RA can result in vitamin K-dependent coagulation factor deficiency,which leads to acquired coagulation dysfunction.Vitamin K1 supplementation has an obvious effect on coagulation dysfunction under these circumstances.
