Center for Medical Genetics, Ghent University Hospital, Ghent, Belgium.
J Pediatr. 2011 Aug;159(2):347-9. doi: 10.1016/j.jpeds.2011.04.044. Epub 2011 Jun 24.
A neonate who received vitamin K (VK) supplementation then developed severe late-onset bleeding with abnormal prothrombin time and activated partial thromboplastine time. The bleeding was corrected after intravenous VK. Molecular analysis of the gamma-glutamylcarboxylase gene revealed a heterozygous single nucleotide polymorphism, which decreases carboxylase activity and induces VK-dependent coagulation deficiency.
一名新生儿接受了维生素 K（VK）补充后，出现严重的迟发性出血，凝血酶原时间和活化部分凝血活酶时间异常。静脉注射 VK 后出血得到纠正。γ-谷氨酰羧化酶基因的分子分析显示杂合单核苷酸多态性，降低羧化酶活性并导致 VK 依赖性凝血缺陷。
