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 concentrat...

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Bibliographic Details
Published in:Pediatric transplantation 2009-03, Vol.13 (2), p.251-254
Main Authors: Lee, Mee Jeong, Kim, Kyung Mo, Kim, Joon Sung, Kim, Yoon Jeong, Lee, Young Joo, Ghim, Thad T.
Format: Article
Language:English
Subjects:
Administration, Oral
Anticoagulants - administration & dosage
Biological and medical sciences
Female
General aspects
Genes, Recessive
Hematologic and hematopoietic diseases
Homozygote
Humans
Infant
Liver Transplantation - methods
Liver, biliary tract, pancreas, portal circulation, spleen
living donor liver transplantation
Medical sciences
neonatal purpura fulminans
Platelet diseases and coagulopathies
Protein C - therapeutic use
protein C deficiency
Protein C Deficiency - drug therapy
Protein C Deficiency - genetics
Purpura Fulminans - genetics
Recurrence
Surgery (general aspects). Transplantations, organ and tissue grafts. Graft diseases
Surgery of the digestive system
Thrombosis - therapy
Treatment Outcome
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Summary::  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.
ISSN:1397-3142
1399-3046
DOI:10.1111/j.1399-3046.2008.00972.x