CYP27A1基因突变致脑黄腱瘤1例报告并文献复习
发布时间：2018-07-16 17:09
【摘要】：目的探讨固醇-27羟化酶(CYP27A1)基因变异引起的脑黄腱瘤患儿的临床特点,肝脏病理改变及预后。方法回顾分析1例CYP27A1基因变异引起的脑黄腱瘤患儿的临床特点,并复习相关文献。结果患儿,女,1月龄,表现为胆汁淤积、肝大、转氨酶升高,谷氨酸转移酶及总胆汁酸正常;病理检查提示肝内胆汁淤积、炎症细胞浸润,毛细胆管扩张及增生;基因检测示CYP27A1基因剪接位点c.1263+1GA/c.1477-3CG复合杂合变异,其中c.1477-3CG为一新颖变异。结论婴儿期出现胆汁淤积、转氨酶升高、肝肿大,而谷氨酸转移酶及总胆汁酸正常或减低,需警惕胆汁酸合成障碍,应尽早完善基因检测,以早期诊断及治疗,改善预后。
[Abstract]:Objective to investigate the clinical features, liver pathological changes and prognosis of children with cerebral yellow tendon tumor caused by variation of steroid-27 hydroxylase (CYP27A1) gene. Methods the clinical features of one child with cerebral yellow tendon tumor caused by CYP27A1 gene mutation were retrospectively analyzed and the related literatures were reviewed. Results the children were 1 month old with cholestasis, large liver, elevated aminotransferase, normal glutamate transferase and total bile acid, pathological examination showed intrahepatic cholestasis, inflammatory cell infiltration, dilatation and proliferation of capillary bile duct. Gene analysis showed that the splicing site of CYP27A1 gene was c. 1263 1GA / c. 1477-3CG complex heterozygosity, in which c. 1477-3CG was a novel mutation. Conclusion during infancy, cholestasis, elevated aminotransferase and hepatomegaly are found, while glutamate transferase and total bile acids are normal or decreased. Therefore, it is necessary to improve gene detection for early diagnosis and treatment and improve prognosis.
【作者单位】： 南京医科大学附属儿童医院消化科;
【基金】：国家临床重点专科建设项目-小儿消化专业资助项目(No.2011873)
【分类号】：R725.9
本文编号：2127049
[Abstract]:Objective to investigate the clinical features, liver pathological changes and prognosis of children with cerebral yellow tendon tumor caused by variation of steroid-27 hydroxylase (CYP27A1) gene. Methods the clinical features of one child with cerebral yellow tendon tumor caused by CYP27A1 gene mutation were retrospectively analyzed and the related literatures were reviewed. Results the children were 1 month old with cholestasis, large liver, elevated aminotransferase, normal glutamate transferase and total bile acid, pathological examination showed intrahepatic cholestasis, inflammatory cell infiltration, dilatation and proliferation of capillary bile duct. Gene analysis showed that the splicing site of CYP27A1 gene was c. 1263 1GA / c. 1477-3CG complex heterozygosity, in which c. 1477-3CG was a novel mutation. Conclusion during infancy, cholestasis, elevated aminotransferase and hepatomegaly are found, while glutamate transferase and total bile acids are normal or decreased. Therefore, it is necessary to improve gene detection for early diagnosis and treatment and improve prognosis.
【作者单位】： 南京医科大学附属儿童医院消化科;
【基金】：国家临床重点专科建设项目-小儿消化专业资助项目(No.2011873)
【分类号】：R725.9
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