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
em En
| WPRIM
| ID: wpr-717635
Biblioteca responsável:
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.
Palavras-chave
Texto completo:
1
Base de dados:
WPRIM
Assunto principal:
Heparina
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Antitrombina III
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Proteína S
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Deficiência de Proteína S
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Trombofilia
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Trombose Venosa
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Deficiência de Antitrombina III
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Mutação de Sentido Incorreto
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Extremidade Inferior
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Catéteres
Limite:
Child
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Humans
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Male
Idioma:
En
Revista:
Clinical Pediatric Hematology-Oncology
Ano de publicação:
2018
Tipo de documento:
Article