Long-term survival of a child with homozygous protein C deficiency successfully treated with living donor liver transplantation.
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.
Lee
Mee Jeong
MJ
Department of Pediatrics, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.
Kim
Kyung Mo
KM
Kim
Joon Sung
JS
Kim
Yoon Jeong
YJ
Lee
Young Joo
YJ
Ghim
Thad T
TT
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
D000925:Anticoagulants; D011486:Protein C