| Autor: |
Al Absi HS; Department of Pediatrics, Division of General Pediatrics, Sheikh Khalifa Medical City., Abdullah MF; Department of Pediatrics, Division of Pediatric Hematology and Oncology, Sheikh Khalifa Medical City, Abu Dhabi, UAE. |
| Jazyk: |
angličtina |
| Zdroj: |
Journal of pediatric hematology/oncology [J Pediatr Hematol Oncol] 2019 May; Vol. 41 (4), pp. e224-e226. |
| DOI: |
10.1097/MPH.0000000000001385 |
| Abstrakt: |
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. |
| Databáze: |
MEDLINE |
| Externí odkaz: |
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