Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease
Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease
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DOI：
10.1016/j.jhep.2008.05.016
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发表时间：
2008-11-01
影响因子：
25.7
通讯作者：
Kobayashi, Keiko
中科院分区：
文献类型：
--
作者：
Komatsu, Michiharu;Yazaki, Masahide;Kobayashi, Keiko
背景/目的：由SLC25A13基因突变引起的柑橘素缺乏可发展为成人发病的II型瓜氨酸血症（CTLN2），并可能伴有肝脂肪变性和脂肪性肝炎。由于其临床特征尚不清楚，我们旨在探讨脂肪肝病与柠檬素缺乏相关的特点。方法：对19例CTLN2患者进行肝脂肪变性检查，并与SLC25A13基因突变的非酒精性脂肪性肝病（NAFLD）患者的临床特征进行比较。结果：17例（89%）CTLN2患者有脂肪变性，4例（21%）在出现神经心理症状之前被诊断为NAFLD。一名患者患有脂肪性肝炎。与没有突变的脂肪肝患者相比，柑橘素缺乏相关的脂肪肝患者伴随肥胖和代谢综合征的患病率明显较低，胰腺炎病史的患病率较高，血清胰腺分泌型胰蛋白酶抑制剂（PSTI）水平较高。受试者工作特征曲线分析显示，体质指数< 20 kg/m(2)和血清PSTl > 29 ng/mL与柠檬素缺乏症相关。结论：与肥胖和代谢综合征无关的非酒精性脂肪肝患者可能存在柠檬酸缺乏症，血清PSTI可能是区分其与传统NAFLD的有用指标。(C) 2008年欧洲肝脏研究协会。Elsevier B.V.版权所有。
Background/Aims: Citrin deficiency caused by SLC25A13 gene mutations develops into adult-onset type II citrullinemia (CTLN2) and may be accompanied with hepatic steatosis and steatohepatitis. As its clinical features remain unclear, we aimed to explore the characteristics of fatty liver disease associated with citrin deficiency.Methods: The prevalence of hepatic steatosis in 19 CTLN2 patients was examined, and clinical features were compared with those of non-alcoholic fatty liver disease (NAFLD) patients without known SLC25A13 gene mutations.Results: Seventeen (89%) CTLN2 patients had steatosis, and 4 (21%) had been diagnosed as having NAFLD before appearance of neuropsychological symptoms. One patient had steatohepatitis. Citrin deficiency-associated fatty livers showed a considerably lower prevalence of accompanying obesity and metabolic syndrome, higher prevalence of history of pancreatitis, and higher serum levels of pancreatic secretory trypsin inhibitor (PSTI) than fatty livers without the mutations. Receiver operating characteristic curve analyses revealed that a body mass index < 20 kg/m(2) and serum PSTl > 29 ng/mL were associated with citrin deficiency.Conclusions: Patients presenting with non-alcoholic fatty liver unrelated to obesity and metabolic syndrome might have citrin deficiency, and serum PSTI may be a useful indicator for distinguishing this from conventional NAFLD. (C) 2008 European Association for the Study of the Liver. Published by Elsevier B.V. All rights reserved.