title: Long-term survival of a child with homozygous protein C deficiency successfully treated with living donor liver transplantation.
abstract: Homozygous protein C deficiency is an autosomal recessive disorder often presenting with purpura fulminans. Fresh frozen plasma and oral anticoagulation have been used in the treatment of this disease. Lately, protein C concentrate has become the treatment of choice. However, protein C concentrate is not yet widely available in many countries. We report a six-month-old girl with homozygous protein C deficiency who had suffered from frequent thrombotic episodes. She was successfully treated with living donor liver transplantation. Eight years after the transplantation, she remains symptom free. As described here, the liver transplantation offers an alternative curative treatment for children with homozygous protein C deficiency.
authors.affiliation: Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
authors.forename: Mee Jeong
authors.initials: MJ
authors.lastname: Lee
authors.forename: Kyung Mo
authors.initials: KM
authors.lastname: Kim
authors.forename: Joon Sung
authors.initials: JS
authors.lastname: Kim
authors.forename: Yoon Jeong
authors.initials: YJ
authors.lastname: Kim
authors.forename: Young Joo
authors.initials: YJ
authors.lastname: Lee
authors.forename: Thad T
authors.initials: TT
authors.lastname: Ghim
mesh_terms: D000284:Administration, Oral; D000925:Anticoagulants / Q000008:administration & dosage; D005260:Female; D005808:Genes, Recessive; D006720:Homozygote; D006801:Humans; D007223:Infant; D016031:Liver Transplantation / Q000379:methods*; D011486:Protein C / Q000627:therapeutic use; D020151:Protein C Deficiency / Q000188:drug therapy* / Q000235:genetics*; D055665:Purpura Fulminans / Q000235:genetics*; D012008:Recurrence; D013927:Thrombosis / Q000628:therapy; D016896:Treatment Outcome
chemical_list: D000925:Anticoagulants; D011486:Protein C