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

页码：E224 / E226

页数：3

共 9 条

[1] Genetic Mutation of Vitamin K-dependent Gamma-glutamyl Carboxylase Domain in Patients with Calcium Oxalate Urolithiasis
Qiao, Jiankun
Wang, Tao
Yang, Jun
Liu, Jihong
Gong, Xiaoxin
Guo, Xiaolin
Wang, Shaogang
Ye, Zhangqun
JOURNAL OF HUAZHONG UNIVERSITY OF SCIENCE AND TECHNOLOGY-MEDICAL SCIENCES, 2009, 29 (05) : 604 - 608
[2] Compound heterozygous mutations in the γ-glutamyl carboxylase gene cause combined deficiency of all vitamin K-dependent blood coagulation factors
Rost, S
Fregin, A
Koch, D
Compes, M
Müller, CR
Oldenburg, J
BRITISH JOURNAL OF HAEMATOLOGY, 2004, 126 (04) : 546 - 549
[3] Congenital Vitamin K-Dependent Clotting Factors Deficiency Type 1: A Rare Bleeding Disorder
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Radaideh, Mahmoud Ahmed
Saleh, Shafeeka Mohamed
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[4] Vitamin K-Dependent Protein Activation: Normal Gamma-Glutamyl Carboxylation and Disruption in Disease
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Runge, Kurt W.
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[5] Vitamin K-Dependent Coagulation Factors Deficiency
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Kuperman, Amir A.
Watzka, Matthias
Oldenburg, Johannes
SEMINARS IN THROMBOSIS AND HEMOSTASIS, 2009, 35 (04) : 439 - 446
[6] Subacute administration of Astaxanthin inhibits vitamin K-dependent clotting factors in rats
Satti, Huda H.
Khaleel, Eman F.
Badi, Rehab M.
Elrefaie, Amany O.
Mostafa, Dalia G.
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[7] Pseudoxanthoma elasticum-like disease with deficiency of vitamin K-dependent clotting factors and cutis laxa features
Gusdorf, L.
Mitcov, M.
Maradeix, S.
Cunat, S.
Martin, L.
Cribier, B.
ANNALES DE DERMATOLOGIE ET DE VENEREOLOGIE, 2016, 143 (04): : 279 - 283
[8] Clinical, Laboratory, and Molecular Characteristics of Inherited Vitamin K-Dependent Coagulation Factors Deficiency
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[9] Experimental arterial thrombosis in genetically or diet induced hyperlipidemia in rats - Role of vitamin K-dependent clotting factors and prevention by low-intensity oral anticoagulation
De Curtis, A
D'Adamo, MC
Amore, C
Polishchuck, R
Di Castelnuovo, A
Donati, MB
Iacoviello, L
THROMBOSIS AND HAEMOSTASIS, 2001, 86 (06) : 1440 - 1448

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