Liver transplantation for an infant with neonatal intrahepatic cholestasis caused by citrin deficiency using heterozygote living donor.
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.
Shigeta
Takanobu
T
Department of Transplant Surgery, National Center for Child Health and Development, Tokyo, Japan. shigeta-t@ncchd.go.jp
Kasahara
Mureo
M
Kimura
Takuya
T
Fukuda
Akinari
A
Sasaki
Kazunari
K
Arai
Katsuhiro
K
Nakagawa
Atsuko
A
Nakagawa
Satoshi
S
Kobayashi
Keiko
K
Soneda
Shun
S
Kitagawa
Hiroaki
H
D002135:Calcium-Binding Proteins / Q000172:deficiency* / Q000235:genetics*; D002780:Cholestasis, Intrahepatic / Q000235:genetics / Q000628:therapy*; D020159:Citrullinemia / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000235:genetics / Q000628:therapy*; D017093:Liver Failure / Q000235:genetics / Q000628:therapy; D016031:Liver Transplantation / Q000379:methods*; D019520:Living Donors; D033681:Mitochondrial Membrane Transport Proteins / Q000235:genetics; D008957:Models, Genetic; D009154:Mutation; D027361:Organic Anion Transporters / Q000172:deficiency* / Q000235:genetics*; D014057:Tomography, X-Ray Computed / Q000379:methods
D002135:Calcium-Binding Proteins; D033681:Mitochondrial Membrane Transport Proteins; D027361:Organic Anion Transporters; C119629:SLC25A13 protein, human; C008822:citrin