A Case of Pediatric Unprovoked Deep Vein Thrombosis due to Combined Hereditary Thrombophilia of Antithrombin III and Protein S Deficiency / 임상소아혈액종양
Clinical Pediatric Hematology-Oncology
; : 185-190, 2018.
Article
in En
| WPRIM
| ID: wpr-717635
Responsible library:
WPRO
ABSTRACT
Unprovoked deep vein thrombosis (DVT) is uncommon in pediatric patients and, among those, combined hereditary thrombophilia is particularly rare. We present a 9-year-old Korean boy who developed lower extremity pain with swelling, and was diagnosed with unprovoked DVT due to hereditary (combined hereditary thrombophilia). Coagulation test revealed antithrombin III and protein S deficiency. The genetic work up confirmed the first case of combined antithrombin III deficiency and protein S deficiency by SERPINC1 heterozygous termination mutation [c.685C>T (p.Arg229*)] and PROS1 heterozygous missense mutation [c.1597G>A (p.Val533Met)]. He was treated with continuous heparin and catheter intervention but those were ineffective or transiently effective. His DVT gradually improved only after prolonged anticoagulation.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Heparin
/
Antithrombin III
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Protein S
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Protein S Deficiency
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Thrombophilia
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Venous Thrombosis
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Antithrombin III Deficiency
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Mutation, Missense
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Lower Extremity
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Catheters
Limits:
Child
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Humans
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Male
Language:
En
Journal:
Clinical Pediatric Hematology-Oncology
Year:
2018
Type:
Article