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Case Study: Severe Cervical Dysplasia and Nasal Cartilage Calcification Following
Prenatal Warfarin Exposure
- Rare syndrome
- Defined as: unexpected bleeding due to a reduction
in Vitamin K coagulation factors in infants 2 to 12
weeks of age
- Usually occurs in breastfed newborns who have not
received vitamin K at birth
- characterized by intracranial hemorrhage
- Intramuscular administration of Vitamin K can
theoretically prevent late VKDB
Case Study
Intervention:
- 2mg of Vitamin K
administered, followed by Major Finding:
assessment of progression of No progression of
intracranial bleeding intracranial bleeding
- Ventriculoperitoneal shunt due to administration of
- Daily dose of 25 µg of oral 2 mg of Vitamin K -
Vitamin K prescribed confirming late VKDB
Conclusion and Significance:
By Khatia Nanobashvili
Hyperemesis Gravidarum, Vitamin K & Binder Phenotype
Hyperemesis gravidarum - Persistent nausea and vomiting
during the pregnancy.
Johnson, M., Richard, C., Bogdan, R., Kidd, R. (2014). Warfarin Dosing in a Patient with CYP2C9*3*3
and VKORC1-1639 AA Genotypes. Case Reports in Genetics, 2014, 1-4.
Genetic Variants
-Cytochrome P450 2C9 (CYP2C9) is the
primary enzyme responsible for
inactivation of warfarin
-Variant Allele 3 decreases activity of
the enzyme by 80%
-VKORC1 gene codes for Vitamin K epoxide
reductase
-VKORC1-1639 A variant decreases gene
transcription by 50%
-Homozygous patients in AA alleles are
extremely sensitive to warfarin. http://bio.unc.edu/people/faculty/tie-jianke/
Case Study – Patient Introduction
Intervention:
-Due to recurrence of atrial
fibrillation, she was
administered warfarin at 2 mg
-After 6 days, she was Major Finding:
administered vitamin K After genetic tests, her
(phytonadione) at 2.5 mg phenotype was CYP2C9*3*3 and
-Vitamin K was given repeatedly VKORC1-1639 AA
every 3-4 days in amounts of
2.5-5 mg
Implications and Clinical Significance