Adult onset type II citrullinemia as a cause of non-alcoholic steatohepatitis

被引：27

作者：

Takagi, H

Hagiwara, S

Hashizume, H

Kanda, D

Sato, K

Sohara, N

Kakizaki, S

Takahashi, H

Mori, M

Kaneko, H

Ohwada, S

Ushikai, M

Kobayashi, K

Saheki, T

机构：

[1] Gunma Univ, Grad Sch Med, Dept Med & Mol Sci, Maebashi, Gumma 3718511, Japan

[2] Gunma Univ, Grad Sch Med, Dept Pediat & Dev Med, Maebashi, Gumma 3718511, Japan

[3] Gunma Univ, Grad Sch Med, Dept Surg, Maebashi, Gumma 3718511, Japan

[4] Kagoshima Univ, Dept Mol Metab & Biochem Genet, Grad Sch Med & Dent Sci, Kagoshima 890, Japan

来源：

JOURNAL OF HEPATOLOGY | 2006年 / 44卷 / 01期

关键词：

NASH; CTLN2; citrullin; pathology; mutation;

D O I：

10.1016/j.jhep.2005.08.024

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

Adult onset type II citrullinemia (CTLN2) is an autosomal recessive disease accompanied with hyperammonemia and a sudden onset of psychiatric disorders. We demonstrated three male patients with CTLN2 having a liver histology of non-alcoholic steatohepatitis (NASH). Patients with NASH were analyzed for the causative gene of CTLN2, SLC25A13 and discussed. (c) 2005 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.

引用

页码：236 / 239

页数：4

共 15 条

[1] Other disease associations with non-alcoholic fatty liver disease (NAFLD)
Allard, JP
[J]. BEST PRACTICE & RESEARCH CLINICAL GASTROENTEROLOGY, 2002, 16 (05) : 783 - 795
[2] ANGULO P, 2004, NEW ENGL J MED, V346, P1221
[3] Non-alcoholic steatohepatitis and iron: increased prevalence of mutations of the HFE gene in non-alcoholic steatohepatitis
Bonkovsky, HL
Jawaid, Q
Tortorelli, K
LeClair, P
Cobb, J
Lambrecht, RW
Banner, BF
[J]. JOURNAL OF HEPATOLOGY, 1999, 31 (03) : 421 - 429
[4] Nonalcoholic steatohepatitis: A proposal for grading and staging the histological lesions
Brunt, EM
Janney, CG
Di Bisceglie, AM
Neuschwander-Tetri, BA
Bacon, BR
[J]. AMERICAN JOURNAL OF GASTROENTEROLOGY, 1999, 94 (09) : 2467 - 2474
[5] TYPE-II CITRULLINEMIA ASSOCIATED WITH NEUTROPENIA
KAMIYA, Y
HORIKOSHI, T
TAKAGI, H
OKADA, S
HASHIMOTO, K
KIDO, C
TAKEHARA, K
NAGAMINE, T
SEKIGUCHI, T
MORI, M
[J]. INTERNAL MEDICINE, 1995, 34 (07) : 679 - 682
[6] Living-related liver transplantation for Type II citrullinemia using a graft from heterozygote donor
Kasahara, M
Ohwada, S
Takeichi, T
Kaneko, H
Tomomasa, T
Morikawa, A
Yonemura, K
Asonuma, K
Tanaka, K
Kobayashi, K
Saheki, T
Takeyoshi, I
Morishita, Y
[J]. TRANSPLANTATION, 2001, 71 (01) : 157 - 159
[7] KOBAYASHI K, 2003, MEMBRANE TRANSPORTER, P147
[8] KOBAYASHI K, 1999, NAT GENET, P22519
[9] Frequency and distribution in East Asia of 12 mutations identified in the SLC25A13 gene of Japanese patients with citrin deficiency
Lu, YB
Kobayashi, K
Ushikai, M
Tabata, A
Iijima, M
Li, MX
Lei, L
Kawabe, K
Taura, S
Yang, YL
Liu, TT
Chiang, SH
Hsiao, KJ
Lau, YL
Tsui, LC
Lee, DH
Saheki, T
[J]. JOURNAL OF HUMAN GENETICS, 2005, 50 (07) : 338 - 346
[10] Adult-onset type II citrullinemia and idiopathic neonatal hepatitis caused by citrin deficiency: involvement of the aspartate glutamate carrier for urea synthesis and maintenance of the urea cycle
Saheki, T
Kobayashi, K
Iijima, M
Horiuchi, M
Begum, L
Jalil, MA
Li, MX
Lu, YB
Ushikai, M
Tabata, A
Moriyama, M
Hsiao, KJ
Yang, Y
[J]. MOLECULAR GENETICS AND METABOLISM, 2004, 81 : S20 - S26

← 1 2 →