【摘要】：目的探討固醇-27羥化酶(CYP27A1)基因變異引起的腦黃腱瘤患兒的臨床特點(diǎn),肝臟病理改變及預(yù)后。方法回顧分析1例CYP27A1基因變異引起的腦黃腱瘤患兒的臨床特點(diǎn),并復(fù)習(xí)相關(guān)文獻(xiàn)。結(jié)果患兒,女,1月齡,表現(xiàn)為膽汁淤積、肝大、轉(zhuǎn)氨酶升高,谷氨酸轉(zhuǎn)移酶及總膽汁酸正常;病理檢查提示肝內(nèi)膽汁淤積、炎癥細(xì)胞浸潤(rùn),毛細(xì)膽管擴(kuò)張及增生;基因檢測(cè)示CYP27A1基因剪接位點(diǎn)c.1263+1GA/c.1477-3CG復(fù)合雜合變異,其中c.1477-3CG為一新穎變異。結(jié)論嬰兒期出現(xiàn)膽汁淤積、轉(zhuǎn)氨酶升高、肝腫大,而谷氨酸轉(zhuǎn)移酶及總膽汁酸正�；驕p低,需警惕膽汁酸合成障礙,應(yīng)盡早完善基因檢測(cè),以早期診斷及治療,改善預(yù)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.
【作者單位】： 南京醫(yī)科大學(xué)附屬兒童醫(yī)院消化科;
【基金】：國(guó)家臨床重點(diǎn)�？平ㄔO(shè)項(xiàng)目-小兒消化專業(yè)資助項(xiàng)目(No.2011873)
【分類號(hào)】：R725.9

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