Citrin缺陷合并肝内胆汁淤积症患儿的临床特征

摘要/Abstract

摘要： 目的探讨Citrin缺陷并肝内胆汁淤积症(NICCD)患儿的临床特征。方法纳入南阳市中心医院2018年7月至2019年7月收治的Citrin缺陷并NICCD患儿30例, 选取同期分娩的正常新生儿30名作为正常组。比较两组血清谷氨酰转肽酶(GGT)、ALT、ALP、AST。同时测定两组促甲状腺激素(TSH)、游离甲状腺素(FT4)、类胰岛素生长因子(IGF-1)、生长激素(GH)水平。绘制受试者工作特征曲线(ROC)分析肝功能、内分泌指标对Citrin缺陷并NICCD的诊断价值。结果病例组血清GGT、ALT、ALP、AST含量分别为(460.38±126.46)、(254.49±75.54)、(424.59±102.48)、(301.93±84.46)U/L, 显著高于正常组的(297.52±89.38)、(129.05±33.56)、(283.19±56.52)、(123.53±62.38)U/L(均P<0.05)。病例组血清IGF-1为(34.65±6.48)ng/mL, 较正常组(164.36±29.96)ng/mL显著降低, 病例组GH(18.35±5.37)ng/mL较正常组(2.01±0.78)ng/mL明显增高(P<0.05)。血清GGT、ALT、ALP、AST、IGF-1、GH含量诊断Citrin缺陷并NICCD的AUC分别为0.694、0.764、0.752、0.782、0.794、0.791。结论与正常婴幼儿相比, Citrin缺陷并NICCD患儿存在明显的肝功能、内分泌异常, 其中血清GGT、ALT、ALP、AST、IGF-1、GH含量可作为诊断该病的重要评价指标。

关键词: 肝内胆汁淤积症, Citrin缺陷, 肝功能, 内分泌

Abstract: Objective To explore the clinical characteristics and diagnosis of citrin deficiency with intrahepatic cholestasis (NICCD).Methods Thirty cases of citrin deficiency with NICCD children admitted to our hospital from July 2018 to July 2019 were selected as the case group, and 30 cases of normal newborns delivered in our hospital in the same period were selected as the normal group.The serum GGT, ALT, ALP and AST were compared between the two groups. The levels of TSH, FT4, IGF-1 and GH were measured at the same time.ROC was drawn to analyze the diagnostic value of liver function and endocrine index for citrin deficiency and NICCD.Results The serum GGT, ALT, ALP and AST contents of the case group were (460.38 ± 126.46) U/L, (254.49 ± 75.54) U/L, (424.59 ± 102.48) U/L, (301.93 ± 84.46) U/L, respectively Higher than the normal group (297.52 ± 89.38) U/L, (129.05 ± 33.56) U/L, (283.19 ± 56.52) U/L, (123.53 ± 62.38) U/L (all P<0.05).The case group serum IGF-1 [(34.65 ± 6.48) ng/mL] was significantly lower than the normal group [(164.36 ± 29.96) ng/mL](P<0.05).The case group GH [(18.35 ± 5.37) ng/mL] was significantly higher than the normal group [(2.01 ± 0.78) ng/mL] (P<0.05).The AUC of serum GGT, ALT, ALP, AST, IGF-1, and GH contents to diagnose Citrin deficiency with NICCD was 0.694, 0.764, 0.752, 0.782, 0.794, 0.791, respectively.Conclusion Compared with normal infants, citrin deficiency with NICCD infants have obvious liver function and endocrine abnormalities, among which serum GGT, alt, ALP, AST, IGF-1, GH can be used as an important index to diagnose the disease.

Key words: Intrahepatic cholestasis, Citrin defect, Liver function, Endocrine

朱萍, 赵杰, 程雪莲, 李德亮, 张伟业. Citrin缺陷合并肝内胆汁淤积症患儿的临床特征[J]. 肝脏, 2020, 25(6): 585-587.

ZHU Ping, ZHAO Jie, CHENG Xue-lian, Li De-liang, ZHANG Wei-ye. Clinical characteristics and diagnosis of citrin deficiency with intrahepatic cholestasis[J]. Chinese Hepatolgy, 2020, 25(6): 585-587.

参考文献 15

[1]	宋元宗. Citrin缺陷导致的新生儿肝内胆汁淤积症发病机制和治疗策略:聚焦胆小管膜载体蛋白. 中华实用儿科临床杂志, 2018, 33:1447-1450.
[2]	张婧, 王晓红, 叶颖子, 等. 白蛋白在诊断Citrin缺陷导致的新生儿肝内胆汁淤积症的价值. 中华肝脏病杂志, 2016, 24:755-760.
[3]	王玲, 程昕然, 鄢力, 等. 一个Citrin蛋白缺乏所致新生儿肝内胆汁淤积症家系的SLC25A13基因突变分析. 中华医学遗传学杂志, 2016, 33:670-673.
[4]	吴秀丽. 良性复发性肝内胆汁淤积症1型1例. 肝脏, 2018, 23:462-463.
[5]	卢致琨, 刘丽, 李端, 等. Citrin蛋白缺陷所致新生儿肝内胆汁淤积症患儿SLC25A13基因突变分析. 中华实用儿科临床杂志, 2018, 33:615-617.
[6]	卢金芳, 徐晨阳, 徐雪琴, 等.一个新生儿肝内胆汁淤积症(NICCD)家系的SLC25A13基因突变检测与产前诊断.中国优生与遗传杂志, 2017, 25:80-82.
[7]	万爱妮, 徐栋生, 蔡燕飞, 等.人胰岛素样生长因子-1的体外抗肝纤维化活性.中国药科大学学报, 2017, 48:476-482.
[8]	徐叶进, 陈凌, 郭玉香, 等.胰岛素样生长因子-1受体在TGF-β1疫苗干预后肝纤维化大鼠肝组织中的表达.中华临床感染病杂志, 2015, 8:158-161.
[9]	王楚琼, 朱孔芹, 叶火旺, 等.生长激素对肝脏胰岛素信号的时间程序性效应.实用医学杂志, 2015, 31:194-197.
[10]	薛倩, 王晶桐, 刘玉兰. Ghrelin与肝脏疾病关系的研究进展. 胃肠病学和肝病学杂志, 2015, 24:615-618.
[11]	吴亚臻, 徐睿霞. 脑蛋白水解物对高原地区缺氧缺血脑病新生儿血清超敏C反应蛋白、胰岛素样生长因子1和白细胞介素-18的影响. 中国康复理论与实践, 2016, 22:1196-1199.
[12]	李淑群. 长期吸入糖皮质激素对婴幼儿哮喘患儿血Ca2+、P3+、胰岛素样生长因子的影响. 检验医学与临床, 2016, 13:2309-2310.
[13]	王盼盼, 张梅, 李萍, 等. 生长激素缺乏症患儿IGF-1与体质量指数的相关研究. 中国儿童保健杂志, 2018, 26:15-18.
[14]	高天喜, 夏翠, 闫静, 等. 间歇低氧模型大鼠肝脏组织中 IGF-1、IGFBP-3的表达及分析. 山东大学耳鼻喉眼学报, 2016, 30:38-41.
[15]	陈月凤, 张金凤, 卢敏, 等. 新生儿重症监护病房实施环境干预对极低出生体质量儿血清生长激素及胰岛素生长因子-1水平的影响. 中国实用护理杂志, 2014, 30:9-11.