A Case of Pediatric Unprovoked Deep Vein Thrombosis due to Combined Hereditary Thrombophilia of Antithrombin III and Protein S Deficiency

서지정보

· 발행기관 : 대한소아혈액종양학회
· 수록지 정보 : Clinical Pediatric Hematology-Oncology / 25권 / 2호 / 185 ~ 190페이지
· 저자명 : 김정연, 강이석, 김희진

초록

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.

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