Genetic Polymorphism ofVKORC1-1639in Children With Intracranial Hemorrhage Due to Vitamin K Deficiency
| Autor: | Serkan Yildiz, Serpil Taheri, Ekrem Unal, Mehmet Akif Ozdemir, Hüseyin Per, Yunus Guler, Keziban Korkmaz Bayramov, Uğur Berber |
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| Rok vydání: | 2018 |
| Předmět: |
Adult
Male 0301 basic medicine Heterozygote medicine.medical_specialty Adolescent Physical examination Disease VKOR1-1639G>A polymorphism Polymorphism Single Nucleotide Gastroenterology 03 medical and health sciences Epilepsy 0302 clinical medicine Vitamin K Epoxide Reductases Internal medicine Intensive care Vitamin K deficiency medicine Humans SNP Child Hematology medicine.diagnostic_test business.industry Homozygote Infant Original Articles General Medicine medicine.disease 030104 developmental biology Child Preschool Mutation Female Vitamin K Deficiency vitamin K prophylaxis VKORC1 business Intracranial Hemorrhages intracranial hemorrhage 030217 neurology & neurosurgery |
| Zdroj: | Clinical and Applied Thrombosis/Hemostasis |
| ISSN: | 1938-2723 1076-0296 |
| DOI: | 10.1177/1076029618792302 |
| Popis: | Intracranial hemorrhage due to vitamin K deficiency is a serious disease that can lead to morbidity, mortality, and mental retardation. Our goal in this study is to determine the frequency of VKORC1-1639 G>A polymorphism in patients who have undergone intracranial hemorrhage due to vitamin K deficiency bleeding (VKDB). To study VKORC1-1639 G>A polymorphism, blood was drawn from patients (n = 51, age 8:0 ± 6:5 years) followed at the Pediatric Neurology and Hematology section, Faculty of Medicine, Erciyes University, between 1990 and 2016, diagnosed with VKDB as idiopathic or from patients diagnosed with intracranial hemorrhage due to secondary vitamin K deficiency and also from volunteers (n = 51, age 11 ± 4.5 years). Intensive care and nutrition needs of patients and the laboratory radiological imaging results and treatments that were applied were analyzed through scanning the files of the patients and information received from families. Through detailed physical examination, patients with neurologic sequelae and ongoing epilepsy were determined. The results were compared to clinical and laboratory results with control group. Eight (15.7%) of the patients were normal, 29 (56.9%) heterozygous carrier, and 14 (27.5%) homozygous mutants. In the control group, 19 (37.3%) were normal, 19 (37.3%) heterozygous carriers, and 13 (25.5%) homozygous mutants. The VKOR1-1639>A (SNP:rs9923231) mutant positivity (homozygous plus heterozygous mutant) was significantly higher in the patient group when compared to controls. There were no significant differences between patient and control groups in terms of the prognosis. |
| Databáze: | OpenAIRE |
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