Histological findings in the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency.
OBJECTIVE
To characterize the histological features of the livers of patients with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), we studied specimens from 30 patients diagnosed with NICCD by genetically analyzing the SLC25A13 gene.


METHODS
Liver biopsy specimens were subjected to hematoxylin-eosin, Azan, and Berlin-blue staining.


RESULTS
Most specimens showed varying degrees of fibrosis. The degree of inflammation varied among the specimens, with half showing moderate or severe inflammatory changes. Fat deposition in hepatocytes was observed in almost all of the specimens, and severe fatty liver was noted in 20 (67%) of them. There was a mixture of two types of hepatocytes with macrovesicular or microvesicular fat droplets, and cholestasis was observed at a rate of 77%. Hemosiderin deposition, mostly mild and localized in periportal hepatocytes and macrophages in portal areas, was observed in 57% of the specimens.


CONCLUSIONS
A combination of mixed macrovesicular and microvesicular fatty hepatocytes and the above-described findings, such as fatty liver, cholestasis, necroinflammatory reaction and iron deposition, are almost never observed in other liver diseases in infants and adults. We believe that NICCD is a disease with characteristic hepatopathological features.
Kimura
Akihiko
A
Department of Pediatrics and Child Health, Kurume University School of Medicine, 67 Asahi-machi, Kurume 830-0011, Japan.
Kage
Masayoshi
M
Nagata
Ikuo
I
Mushiake
Sotaro
S
Ohura
Toshihiro
T
Tazawa
Yusaku
Y
Maisawa
Shunichi
S
Tomomasa
Takeshi
T
Abukawa
Daiki
D
Okano
Yoshiyuki
Y
Sumazaki
Ryo
R
Takayanagi
Masaki
M
Tamamori
Akiko
A
Yorifuji
Tohru
T
Yamato
Yasuhiko
Y
Maeda
Kohji
K
Matsushita
Masami
M
Matsuishi
Toyojiro
T
Tanikawa
Ken
K
Kobayashi
Keiko
K
Saheki
Takeyori
T