title: Successful living domino liver transplantation in a child with protein C deficiency.
abstract: 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.
authors.affiliation: Transplantation Center, National Center for Child Health and Development, Tokyo, Japan.
authors.forename: Masatoshi
authors.initials: M
authors.lastname: Matsunami
authors.forename: Akira
authors.initials: A
authors.lastname: Ishiguro
authors.forename: Akinari
authors.initials: A
authors.lastname: Fukuda
authors.forename: Kengo
authors.initials: K
authors.lastname: Sasaki
authors.forename: Hajime
authors.initials: H
authors.lastname: Uchida
authors.forename: Takanobu
authors.initials: T
authors.lastname: Shigeta
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Kanazawa
authors.forename: Seisuke
authors.initials: S
authors.lastname: Sakamoto
authors.forename: Motoki
authors.initials: M
authors.lastname: Ohta
authors.forename: Hisaya
authors.initials: H
authors.lastname: Nakadate
authors.forename: Reiko
authors.initials: R
authors.lastname: Horikawa
authors.forename: Atsuko
authors.initials: A
authors.lastname: Nakazawa
authors.forename: Mika
authors.initials: M
authors.lastname: Ishige
authors.forename: Koichi
authors.initials: K
authors.lastname: Mizuta
authors.forename: Mureo
authors.initials: M
authors.lastname: Kasahara
mesh_terms: D000925:Anticoagulants / Q000627:therapeutic use; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008099:Liver / Q000378:metabolism; D016031:Liver Transplantation / Q000379:methods*; D019520:Living Donors; D008375:Maple Syrup Urine Disease; D009154:Mutation; D011486:Protein C / Q000378:metabolism; D020151:Protein C Deficiency / Q000601:surgery*; D055665:Purpura Fulminans / Q000209:etiology*; D016896:Treatment Outcome
chemical_list: D000925:Anticoagulants; D011486:Protein C
keywords: domino liver transplantation; maple syrup urine disease; neonatal purpura fulminans; protein C concentrate; protein C deficiency