Citrin缺陷导致的新生儿肝内胆汁淤积症内分泌代谢特征分析

Endocrine and metabolic features of neonatal intrahepatic cholestasis caused by citrin deficiency

目的探讨Citrin缺陷导致的新生儿肝内胆汁淤积症(NICCD)的内分泌代谢特征。方法对2009年11月至2011年5月在广州市妇女儿童医疗中心确诊的20例NICCD患儿进行常规实验室检查、内分泌实验室检查、血浆氨基酸分析和酰基肉碱分析。结果 NICCD患儿有肝功能异常、高胆红素血症、低蛋白血症、凝血酶原时间延长,血脂、血氨、血乳酸升高,血铜蓝蛋白、血糖降低;甲状腺功能基本正常,生长激素(GH)升高,类胰岛素生长因子(IGF-1)降低;血浆氨基酸谱示瓜氨酸、苏氨酸、蛋氨酸、精氨酸、酪氨酸、天冬酰胺、鸟氨酸和赖氨酸升高;血浆酰基肉碱谱示游离肉碱、短链酰基肉碱、长链酰基肉碱升高。结论 NICCD患儿具有高脂血症、高氨血症、高乳酸血症、低血糖、生长激素抵抗、特征性氨基酸谱、特征性酰基肉碱谱等内分泌代谢特征。

Objective To investigate the endocrine and metabolic features of neonatal intrahepatie cholestasis caused by citrin deficiency （NICCD）. Methods Twenty patients with NICCD were diagnosed by gene mutation analysis in Guangzhou Women and Children Medical Center, from Nov.2009 to May 2011. The examinations were made, including routine laboratory tests, endocrine laboratory tests, plasma amino acid analysis by high performance liquid chromato- graph （HPLC）and plasma acylcarnitine analysis by tandem mass spectrometry. Results Routine laboratory tests showed liver dysfunction, hyperbilirubinemia, hypoproteinemia, prolonged prothrombin time, hyperlipidemia, hyper- ammonemia, hyperlactacidemia, hypoglycemia and a low level of ceruloplasmin. Endocrine laboratory data showed nor- mal thyroid function, elevated serum growth hormone （GH） and a low level of insulin-like growth factor-1 （IGF-1）. Plasma amino acid analysis showed significant elevation of citrulline, threonine, methionine, arginine, tyrosine, aspa- ranide, ornithine and lysine. Plasma acylcarnitine analysis showed an elevation of free caruitine, short-chain acylcarni- tine and long-chain acylcarnitine. Conclusion The patients with NICCD show such endocrine features as hyperlipid- emia, hyperammonemia, hyperlactacidemia, hypoglycemia , growth hormone resistance, characteristic plasma amino acid profile and characteristic plasma acylcarnitine profile.