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Liver transplantation for an infant with neonatal intrahepatic cholestasis caused by citrin deficiency using heterozygote living donor
Author(s) -
Shigeta Takanobu,
Kasahara Mureo,
Kimura Takuya,
Fukuda Akinari,
Sasaki Kazunari,
Arai Katsuhiro,
Nakagawa Atsuko,
Nakagawa Satoshi,
Kobayashi Keiko,
Soneda Shun,
Kitagawa Hiroaki
Publication year - 2010
Publication title -
pediatric transplantation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.457
H-Index - 69
eISSN - 1399-3046
pISSN - 1397-3142
DOI - 10.1111/j.1399-3046.2009.01172.x
Subject(s) - citrullinemia , medicine , liver transplantation , cholestasis , compound heterozygosity , transplantation , complication , surgery , coagulopathy , pediatrics , gastroenterology , urea cycle , mutation , amino acid , arginine , gene , biochemistry , chemistry
Shigeta T, Kasahara M, Kimura T, Fukuda A, Sasaki K, Arai K, Nakagawa A, Nakagawa S, Kobayashi K, Soneda S, Kitagawa H. Liver transplantation for an infant with neonatal intrahepatic cholestasis caused by citrin deficiency using heterozygote living donor.
Pediatr Transplantation 2010: 14:E86–E88. © 2009 John Wiley Sons & A/S. Abstract: NICCD is an autosomal recessive genetic disorder, characterized by cholestasis, coagulopathy, hypoglycemia, fatty liver and multiple amino acidemia. NICCD develops in the neonatal/infantile period and has been reported as a “naturally curable” disease within one yr of life. Recently, we experienced an infantile NICCD who developed progressive liver failure, and required subsequent LT using a heterozygote living donor at eight months of age. Diagnosis of NICCD was established before transplantation, and donor evaluation included mutation in the SLC25A13 gene for exclusion of individuals with citrin deficiency citrullinemia. LDLT, from blood type identical mother using a left lateral segment graft, was performed without serious complication. Plasma amino acid concentration was normalized rapidly, and the patient was discharged 30 days after transplant. During one yr follow up, the recipient has been doing well without additional medication for NICCD. NICCD should be considered in the differential diagnosis as a cause of neonatal/infantile cholestatic disease. LT using a heterozygote living donor is an effective alternative in countries where a deceased donor is not available.