Citrin缺乏引起的新生儿肝内胆汁淤积症及基因一表型分析一例
被引量：1
摘要
患儿男，4个月，因“巩膜黄染1个月”于2011年6月就诊。患儿系孕1产1，足月顺产，出生体重2．7kg，身高51cm。生后3d皮测胆红素无异常。3个月龄始出现巩膜黄染，大便色淡，牛长发育与同龄儿无明显差异。患儿父母非近亲结婚，否认家族史。体检：患儿神清，反应可，“胖圆脸”，伞身皮肤及巩膜轻度黄染，无皮疹。咽充血，双肺呼吸音粗，无干湿哕音，心率120次／min，心音有力，律齐，无杂音。腹软，肝肋下2cm，脾不大，腹部无包块，肠鸣音正常。
出处
《中华医学杂志》
CAS
CSCD
北大核心
2012年第17期1222-1223,共2页
National Medical Journal of China
参考文献5
-
1Ohura T, Kobayashi K, Saheki T, et al. Neonatal presentation of aduh-onset type II citrullinemia. Hum Genet, 2001,108:87-90.
-
2Tamamori A, Okan OY, Ozaki H, et al. Neonatal intrahepatic cholestasis caused by citrin deficiency:severe hepatic dysfunction in an infant requiring liver transplantation. Eur J Pediatr,2002, 161:609-613.
-
3Song YZ, Deng M, Wang ZN, et al. Genotypic and phenotypic features of eitrin deficiency:five-year experience in a Chinese pediatric center. Int J Molec Med, 2011,28:33-40.
-
4Tomomasa T, Kobayashi K, Kaneko H, et al . Possible clinical and histologic manifestatinns of adult-onset type II citrullinemia in early infancy. J Pediatr , 2001,138:741-743.
-
5刘志峰,金玉,郭红梅,何祖蕙,练敏,林谦,李玫.Citrin缺陷导致的新生儿肝内胆汁淤积症一例[J].中华儿科杂志,2010,48(11):866-867. 被引量：2
二级参考文献6
-
1Song YZ,Li BX,Chen FP,et al.Neonatal intrahepatic cholestasis caused by citrin deficiency:Clinical and laboratory investigation of 13 subjects in mainland of China.Dig Liver Dis,2009,41:683-689.
-
2Fiermonte G,Soon D,Chaudhuri A,et al.An adult with type 2 citrullinemia presenting in Europe.N Engl J Med,2008,358:1408-1409.
-
3Hutchin T,Preece MA,Hendriksz C,et al.Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK.J Inherit Metab Dis,2009,[Epub ahead of print].
-
4Tazawa Y,Kobayashi K,Abukawa D,et al.Clinical heterogeneity of neonatal intrahepatic cholestasis caused by citrin deficiency:case reports from 16 patients.Mol Genet Metab,2004,83:213-219.
-
5刘志峰,郭红梅,练敏,李玫,张志华,金玉,林谦,何祖蕙.应用尿液气相色谱-质谱分析法筛查儿童遗传代谢性肝病的临床意义[J].实用儿科临床杂志,2010,25(8):575-576. 被引量：6
-
6郭红梅,刘志峰,林谦,李玫,金玉.Citrin缺陷导致的新生儿肝内胆汁淤积症11例临床特征分析[J].南京医科大学学报（自然科学版）,2010,30(6):883-885. 被引量：1
同被引文献16
-
1Saheki T, Kobayashi K, Iijima M, et al. Metabolic derangements in deficiency of citrin, a liver-type mitochondrial aspartate- glutamate carrier. Hepatol Res, 2005, 33: 181-184.
-
2Saheki T, Kobayashi K. Mitoehondrial aspartate glutamate cartier (citrin) deficiency as the cause of aduIt-onset type 11 citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). J Hum Genet, 2002, 47 : 333-341.
-
3Ikeda S, Yazaki M, Takei Y, et al. Type Ⅱ (aduh onset) citrullinemia: clinical pictures and the therapeutic effect of liver transplantation. J Neurol Neurosurg Psychiatry, 2001, 71 : 663- 670.
-
4Yazaki M, Ikeda S, Takei Y, et al. Complete neurological recovery of an adult patient with type ]I citrullinemia after living related partial liver transplantation. Transplantation, 1996, 62 : 1679-1684.
-
5Ohura T, Kobayashi K, Tazawa Y, et al. Neonatal presentation of adult-onset type 11 citrullinemia. Hum Genet, 2001,108: 87-90.
-
6Tamamori A, Okano Y, Ozaki H, et al. Neonatal intrahepatic cholestasis caused by citrin deficiency: severe hepatic dysfunction in an infant requiring liver transplantation. Eur J Pediatr, 2002, 161 : 609-613.
-
7Tomomasa T, Kobayashi K, Kaneko H, et al. Possible clinical and histologic manifestations of adult-onset type Ⅱ citrullinemia in early infancy. J Pediatr, 2001,138: 741-743.
-
8Komatsu M I Yazaki M, Tanaka N, et al. Citrin deficiency as a cause of chronic liver disorder mimicking non-alcoholic fatty liver disease. J Hepatol,2008, 49: 810-820.
-
9Kobayashi K, Horiuchi M, Saheki T. Pancreatic secretory trypsin inhibitor as a diagnostic marker for adult-onset type Ⅱ citrullinemia. Hepatology,1997, 25 : 1160-1165.
-
10Sanyal A J, Campbell-Sargent C, Mirshahi F, et al. Nonalcoholic steatohepatitis: association of insulin resistance and mitochondrial abnormalities. Gastroenterology,2001, 120 : 1183-1192.
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-
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-
1李毅,肖勇.妊娠合并急性脂肪肝误诊1例[J].实用妇产科杂志,2003,19(1):11-11.
-
2付锦红,邹留河.上巩膜畸胎瘤一例[J].中华眼科杂志,2004,40(9):644-644.
-
3王丹,徐惠成,陈勇,史常旭,梁志清.腹胀、少尿伴潮热、盗汗1月[J].实用妇产科杂志,2009,25(12):718-720.
-
4蒋登华,马银芝.18例幼女小阴唇粘连的诊治体会[J].农垦医学,2005,27(5):350-350.
-
5马小玲,张玉泉.35^(+3)周双胎妊娠合并妊娠急性脂肪肝1例报告[J].现代妇产科进展,2008,17(3):234-234.
-
6林娟,陈水仙,陈小梅,黄艳红.妊娠期急性脂肪肝死亡12例回顾分析[J].海峡预防医学杂志,2014,20(4):88-88. 被引量：1
-
7周丽娟,胡琴,王世雄.小儿XYY综合征5例核型及表型分析[J].中国优生与遗传杂志,1995,3(4):80-80.
-
8李花繁,李维玲.妊娠期急性脂肪肝2例报告[J].陕西医学杂志,2010,39(11):1567-1567.
-
9张淑梅.妊娠合并胆汁淤积症的临床分析[J].青海医学院学报,2004,25(2):128-129. 被引量：1
-
10滕红,王改珍.妊娠急性脂肪肝1例报告[J].吉林大学学报（医学版）,2008,34(4):555-555.
