Yeh Jiun-Nan, Jeng Yung-Ming, Chen Huey-Lin, Ni Yen-Hsuan, Hwu Wuh-Liang, Chang Mei-Hwei
Department of Pediatrics, Department of Pathology, National Taiwan University Hospital, Taipei, Taiwan.
J Pediatr. 2006 May;148(5):642-6. doi: 10.1016/j.jpeds.2005.12.020.
To explore the prevalence of hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants with idiopathic intrahepatic cholestasis.
The liver specimens from 69 infants with idiopathic intrahepatic cholestasis were reviewed (1993-2004); 11 of them (14.7%) had hepatic steatosis. Six patients with hepatic steatosis participated in the genetic study for the SLC25A13 gene under parental consent.
Infants with cholestasis and hepatic steatosis had lower aspartate aminotransferase (AST) and alanine aminotransferase (ALT) levels than those with cholestasis alone. Three of the six infants in the genetic study had homozygous 851del4 mutation; for the others, homozygous 1638ins23 mutation, compound heterozygous 851del4/IVS6+5G-->A mutation, and heterozygous IVS6+5G-->A mutation were found for each one. Eleven of the total 12 alleles (91.7%) were demonstrated to have SLC25A13 gene mutations.
Metabolic and genetic studies for NICCD should be performed in Asian infants with idiopathic intrahepatic cholestasis and hepatic steatosis. The 851del4 mutation on the SLC25A13 gene accounts for the major genotype expression of patients with NICCD in Taiwan.
探讨台湾地区特发性肝内胆汁淤积症婴儿中肝脂肪变性及由Citrin缺乏引起的新生儿肝内胆汁淤积症（NICCD）的患病率。
回顾了1993年至2004年69例特发性肝内胆汁淤积症婴儿的肝脏标本；其中11例（14.7%）有肝脂肪变性。11例肝脂肪变性患者在获得家长同意后参与了SLC25A13基因的遗传学研究。
合并胆汁淤积和肝脂肪变性的婴儿，其天冬氨酸转氨酶（AST）和丙氨酸转氨酶（ALT）水平低于单纯胆汁淤积的婴儿。遗传学研究中的6例婴儿中有3例存在纯合子851del4突变；其他分别发现有纯合子1638ins23突变、复合杂合子851del4/IVS6 + 5G→A突变以及杂合子IVS6 + 5G→A突变。12个等位基因中的11个（91.7%）被证实存在SLC25A13基因突变。
对于亚洲地区患有特发性肝内胆汁淤积症和肝脂肪变性的婴儿，应进行NICCD的代谢和遗传学研究。SLC25A13基因上的851del4突变是台湾地区NICCD患者主要的基因型表现。
