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Rotor综合征合并慢性肾衰1例家系调查并文献复习 被引量:1

Family Line Investigation of One Case of Rotor's Syndrome Combined with Chronic Renal Failure and Literature Review
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摘要 目的:探讨R otor综合征的发病机制及临床特点,提高临床医师对该病的认识。方法:报告1例合并有慢性肾衰的R otor综合征的临床资料,复习相关文献,总结其临床表现,诊断方法及预后。结果:该患者通过其临床表现、家族史和肝活检诊断为R otor综合征,并行肾移植,术后肝功并无明显受损。结论:该病罕见,临床自幼表现为波动性黄疸,肝活检及99mT c-H IDA胆道显像有助于明确诊断,预后较好。 Objective:To analyze the clinical characteristics and pathogensis of Rotor's syndrome and to improve the understanding of the disease. Methods;The data of the clinical manifestation and examination of the patient with Rotor's syndrome incorporating renal failure were studied ,and the clinical symptom,diagnosis and prognosis of Rotor's syndrome were summarized by reviewing literature. Result:The patient was diagnosed Rotor's syndrome by clinical manifestation ,family medical history and liver biopsy ,and received renal transplantation without obvious hepatic function injury after operation, Conclusion:Rotor's syndrome is a rare disease with fluctuant jaundice since birth and prognosis well. Liver biopsy and cholescintigraphy may be helpful in the diagnosis of Rotor's syndrome.
出处 《中国误诊学杂志》 CAS 2006年第10期1840-1842,共3页 Chinese Journal of Misdiagnostics
关键词 高胆红素血症 遗传性/诊断 肾功能衰竭 慢性/诊断 预后 Hyperbilirubinemia,hereditary/diagnosis Kidney failure,chronic/diagnosis Prognosis
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参考文献7

  • 1Cichoz-Lach H,Celinski K,Slomka M.Congenital nonhemolytic hyperbilirubinemias[J].Annales Universitatis Mariae Curie-Sklodowska-Sectio d-Medicina,2004,59(1):449-452.
  • 2赵国根,刘雁,陈群伟.Dubin-Johnson综合征七例和Rotor综合征二例的临床分析[J].中华传染病杂志,2004,22(4):279-281. 被引量:9
  • 3Fretzayas A,Koukoutsakis P,Moustaki M,et al.Coinheritance of Rotor syndrome,G-6-PD deficiency,and heterozygous beta thalassemia:a possible genetic interaction[J].Journal of Pediatric Gastroenterology & Nutrition,2001,33(2):211-213.
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