Congenital combined deficiency of factor VII and X in a patient due to accidental diphacinone intoxication

Zheng, Fang-xiu; Jin, Yanhui; Wang, Mingshan; Niu, Zhenzhen; Xu, Pengfei; Xie, Haixiao

doi:10.1160/th10-11-0732

Cited by 3 publications

(5 citation statements)

References 14 publications

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“…extended unexplained spontaneous ecchymosis, epistaxis, hematoma, bleeding from the gastro-intestinal or the genitourinary tract as well as intra-cerebral bleeding are reported [39][40][41][42][43][44][45][46].…”

Section: Clinical Outcomes and Laboratory Diagnosismentioning

confidence: 99%

“…The diagnosis of rodenticide intoxication has to be considered for any patient with prolonged prothrombin time (increased INR), prolonged activated partial prothrombin time; the vitamin K-dependent factor II, VII, X, IX coagulant activities are decreased while factor V coagulant activity and the ibrinogen level are normal [41,43,47,48]. Liver dysfunction, cholestasis and severe starvation can be ruled out by normal liver enzymes and serum albumin concentration.…”

Section: Clinical Outcomes and Laboratory Diagnosismentioning

confidence: 99%

See 1 more Smart Citation

Poisoning by Anticoagulant Rodenticides in Humans and Animals: Causes and Consequences

Lefebvre¹,

Fourel²,

Queffélec³

et al. 2017

Poisoning - From Specific Toxic Agents to Novel Rapid and Simplified Techniques for Analysis

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Anticoagulant rodenticides (ARs) are a keystone of the management of rodent populations in the world. The widespread use of these molecules raises questions on exposure and intoxication risks, which deine the safety of these products. Exposures and intoxications can afect humans, domestic animals and wildlife. Consequences are diferent for each group, from the simple issue of intoxication in humans to public health concern if farm animals are exposed. After a rapid presentation of the mechanism of action and the use of anticoagulant rodenticides, this chapter assesses the prominence of poisoning by anticoagulant rodenticides in humans, domestic animals and wildlife.

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Section: Clinical Outcomes and Laboratory Diagnosismentioning

confidence: 99%

Section: Clinical Outcomes and Laboratory Diagnosismentioning

confidence: 99%

Poisoning by Anticoagulant Rodenticides in Humans and Animals: Causes and Consequences

Lefebvre¹,

Fourel²,

Queffélec³

et al. 2017

Poisoning - From Specific Toxic Agents to Novel Rapid and Simplified Techniques for Analysis

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“…After evaluation of FVII and FX activity together with molecular analysis, the patient was found to suffer from congenital combined FVII and FX. 18 The genes encoding FVII and FX are located on chromosome 13 (13q34), and combined FVII-FX deficiency is also reported in several cases with 13q34 deletion syndrome. 19 – 21 We also reported 3 females with combined afibrinogenemia and FVII deficiency, who were investigated due to ICH, menorrhagia, and bruising, respectively.…”

Section: Discussionmentioning

confidence: 99%

Congenital Combined Bleeding Disorders, a Comprehensive Study of a Large Number of Iranian Patients

Ahmadi

Jazebi

Bahoush

et al. 2021

Clin Appl Thromb Hemost

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Congenital combined bleeding disorders (CBDs) are extremely rare disorders which mainly occur in regions with a high rate of consanguineous marriage. These disorders can present with a variety of symptoms ranging from mucocutaneous bleeding to life-threatening episodes. This study aims to evaluate the prevalence and clinical course of Iranian patients with congenital CBDs. This study is conducted on 450 patients with CBDs who were referred to the Iranian Comprehensive Hemophilia Care Center (ICHCC) between 2010 and 2020. All these patients were diagnosed through evaluation of past medical history and coagulation laboratory investigation. Out of 450 patients, 33 were entered in this study. Having excluded cases with factor (F) V and FVIII deficiency, as well as those with hereditary combined Vitamin K dependent clotting factor deficiency (VKCFD), We found the most common CBDs to be FV-FVII deficiency (n: 6, 18.1%), together with FVII and FX deficiency (n: 6, 18.1%). The most common reason for referral of these patients to ICHCC was postoperative bleeding (14.3%). The mean of The International Society on Thrombosis and Hemostasis-Bleeding Assessment Tool (ISTH-BAT) and condensed MCMDM-1VWD bleeding assessment tool were 9.6 ± 4.79 and 9.1 ± 4.87, respectively (P < 0.005). In 10 females of reproductive age, the mean of Pictorial Bleeding Assessment Chart (PBAC) score was 649.3 ± 554. Among all patients, 23 (69.7%) received on-demand replacement therapy, whereas 5 patients (15.1%) received prophylaxis. In Iran, the coinheritance of bleeding disorders is surprisingly higher than expected. Moreover, patients with congenital CBDs may experience serious bleeding manifestations.

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“…As the p.Gly406Ser amino acid substitution causes a molecular defect that results in severely reduced (<1%) FX activity, the p.Val424Phe mutant protein is likely responsible for the low FX activity in this patient. In 2011, a patient with the homozygous p.Val424Phe mutation was identified in China . The antigen and activity levels of our recombinant FX‐p.Val424Phe were similar to the laboratory findings of this p.Val424Phe homozygous patient.…”

Section: Discussionmentioning

confidence: 99%

“…In 2011, a patient with the homozygous p.Val424Phe mutation was identified in China. 20 The antigen and activity levels of our recombinant FX-p.Val424Phe were similar to the laboratory findings of this p.Val424Phe homozygous patient.…”

Section: Pval424phementioning

confidence: 99%

Congenital coagulation factor X deficiency: Genetic analysis of five patients and functional characterization of mutant factor X proteins

et al. 2018

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Congenital factor X (FX) deficiency is a rare bleeding disorder that is inherited as an autosomal recessive trait. In this study, a genetic analysis of the FX gene was performed in five families with this disorder. Four heterozygous mutations [p.Gly154Arg, p.Val236Met, p.Gly263Val and p.Arg387Cys] and one pair of compound heterozygous FX gene mutations consisting of p.Gly406Ser and p.Val424Phe were identified. Mutant FX proteins containing the identified amino acid substitutions were also expressed in cultured cells. These proteins were analysed by enzyme-linked immunosorbent assay and pulse-chase experiments. The results demonstrated normal intracellular synthesis and extracellular secretion of mutant FX proteins carrying the p.Val236Met, p.Arg387Cys and p.Gly406Ser amino acid substitutions. However, the results also showed that the p.Gly154Arg, p.Gly263Val and p.Val424Phe proteins were secreted less efficiently than the wild-type protein, although they were synthesized normally in the cell. Collectively, these observations suggest that the amino acid substitutions p.Gly154Arg, p.Gly263Val and p.Val424Phe induce protein misfolding, leading to the intracellular degradation of many FX proteins containing any of these mutations, and ultimately to the development of FX deficiency. On the other hand, for the p.Val236Met, p.Arg387Cys and p.Gly406Ser mutant proteins, we hypothesize that secreted FX proteins have impaired coagulant activities due to functional defects caused by these amino acid substitutions.

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Congenital combined deficiency of factor VII and X in a patient due to accidental diphacinone intoxication

Cited by 3 publications

References 14 publications

Poisoning by Anticoagulant Rodenticides in Humans and Animals: Causes and Consequences

Poisoning by Anticoagulant Rodenticides in Humans and Animals: Causes and Consequences

Congenital Combined Bleeding Disorders, a Comprehensive Study of a Large Number of Iranian Patients

Congenital coagulation factor X deficiency: Genetic analysis of five patients and functional characterization of mutant factor X proteins

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