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| Phenotype change and correlative analysis for a combined inherited factor VII and factor X deficiency due to accidental ingestion of a diphacinone rodenticide |
Laboratory Medicine Center, the First Affiliated Hospital of Wenzhou Medical University, Wenzhou, 325015
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XIE Yaosheng,JIN Yanhui,XIE Haixiao, et al. Phenotype change and correlative analysis for a combined inherited factor VII and factor X deficiency due to accidental ingestion of a diphacinone rodenticide[J]. JOURNAL OF WEZHOU MEDICAL UNIVERSITY, 2015, 45(6): 417-.
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Abstract Objective: To explore the characteristics of laboratory phenotype and correlative analysis for a patient with combined inherited FVII and FX deficiency after he had ate a diphacinone rodenticide accidentally. Methods: The coagulant parameter screening tests and coagulation factors activities were detected for many times in the patient due to accidental ingestion of a diphacinone rodenticide. After the patient was treated for more than one year, gene analysis of correlated coagulation factors was analyzed in the patient and other family members with DNA direct sequencing. Select 106 persons of health examination as control. Results: After the patient was admitted to hospital, routine coagulation screening tests revealed the prolonged prothrombin time (PT) and activated partial thromboplastin time (APTT) and low levels of vitamin K-dependent coagulation factors (FII, FVII, FIX, FX) activity, which was 102.4 s, 88.5 s, 7%, 3%, 8% and 2%, respectively. During more than one year of treatment, the value of PT and APTT still showed significantly prolonged, FVII and FX activity levels were about 5%. While FII and FIX activity levels were in the normal range after 12 weeks of treatment. Two homozygous mutations, g.11267C>T of F7 gene resulting in the substitution Arg277Cys and g.28139G>T of F10 gene leading to the substitution Val384Phe, were identified in the patient. The patient’s parents and sister were heterozygous for Arg277Cys and Val384Phe mutations. FVII and FX antigen levels in the patient were 7% and 30%, respectively. Conclusion: There are many similarities in the characteristics of laboratory examination between combined inherited FVII and FX deficiency and acquired vitamin K deficiency. The best way to identify them is gene analysis.
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Received: 16 March 2015
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YU Xiaomin,CHANG Guolin, ZHENG Yiyang, CHEN Cheng, TANG Shiyi, WU Xinyuan, LYU Jia, LIN Xiangyang, ZHU Liqing.. The pathogenic mechanism of inherited protein C deficiency caused by Ala333Thr mutation[J]. JOURNAL OF WEZHOU MEDICAL UNIVERSITY, 2022, 52(5): 352-357. |
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