Congenital Combined Deficiency of the Vitamin K-dependent Clotting Factors (VKCFD): A Novel Gamma-glutamyl Carboxylase (GGCX) Mutation

被引：4
|
作者：
Al Absi, Hebah S. [1 ]
Abdullah, Mohammad F. [2 ]
机构：
[1] Sheikh Khalifa Med City, Dept Pediat, Div Gen Pediat, Al Karama St, Abu Dhabi, U Arab Emirates
[2] Sheikh Khalifa Med City, Dept Pediat, Div Pediat Hematol & Oncol, Abu Dhabi, U Arab Emirates
来源：
JOURNAL OF PEDIATRIC HEMATOLOGY ONCOLOGY | 2019年 / 41卷 / 04期
关键词：
bleeding disorder; VKCFD; GGCX gene; HEREDITARY-DEFICIENCY; COAGULATION-FACTORS;
D O I：
10.1097/MPH.0000000000001385
中图分类号：
R73 [肿瘤学];
学科分类号：
100214 ;
摘要：
Congenital combined vitamin K-dependent clotting factors deficiency (VKCFD) is a very rare autosomal recessive bleeding disorder. Here we report a case of a girl with novel variant in the gamma-glutamyl carboxylase (GGCX) gene leading to VKCFD. A 3-month-old girl presented to our hospital with a history of bleeding from puncture site. Laboratory evaluation showed markedly prolonged partial thromboplastin time and activated partial thromboplastin time. Activities of vitamin K-dependent factors were all low. Genetic analysis revealed a homozygous currently unreported variant in the GGCX gene further supporting a diagnosis of VKCFD type 1. VKCFD due to GGCX mutation has an overall good prognosis
引用
收藏
页码：E224 / E226
页数：3
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