Successful living domino liver transplantation in a child with protein C deficiency

PC is produced in the liver and inhibits blood coagulation by catalyzing active factors V and VIII. PC deficiency causes abnormal blood clotting that is difficult to regulate by anticoagulative treatments. Four reports of PC deficiency treated with LTx have been published; however, no report of DLT...

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Bibliographic Details
Published in:Pediatric transplantation 2015-05, Vol.19 (3), p.E70-E74
Main Authors: Matsunami, Masatoshi, Ishiguro, Akira, Fukuda, Akinari, Sasaki, Kengo, Uchida, Hajime, Shigeta, Takanobu, Kanazawa, Hiroyuki, Sakamoto, Seisuke, Ohta, Motoki, Nakadate, Hisaya, Horikawa, Reiko, Nakazawa, Atsuko, Ishige, Mika, Mizuta, Koichi, Kasahara, Mureo
Format: Article
Language:English
Subjects:
Anticoagulants - therapeutic use
domino liver transplantation
Female
Heterozygote
Humans
Infant
Liver - metabolism
Liver Transplantation - methods
Living Donors
Maple Syrup Urine Disease
Mutation
neonatal purpura fulminans
Protein C - metabolism
protein C concentrate
protein C deficiency
Protein C Deficiency - surgery
Purpura Fulminans - etiology
Treatment Outcome
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Summary:PC is produced in the liver and inhibits blood coagulation by catalyzing active factors V and VIII. PC deficiency causes abnormal blood clotting that is difficult to regulate by anticoagulative treatments. Four reports of PC deficiency treated with LTx have been published; however, no report of DLT as a therapy for PC deficiency is available. We describe a case of a 23‐month‐old girl who received DLT for compound heterozygous PC deficiency. Her PC activity was below 5%. She developed intracranial lesion and frequent refractory purpura fulminans. Both her parents had heterozygous mutations of PC genes and were excluded as living donors. Furthermore, she was a low priority on the waiting list of deceased‐donor transplantation. We performed living DLT using the liver from a patient with MSUD. Activated PC concentrate safely supported the perioperative period. After DLT, she maintained normal PC activities and BCAA levels. This is the first case of PC deficiency successfully treated by living DLT with MSUD. We propose that DLT using liver from patients with MSUD is a treatment option for PC deficiency.
ISSN:1397-3142
1399-3046
DOI:10.1111/petr.12446