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Nonsense variant of ATP8B1 gene in heterozygosis and benign recurrent intrahepatic cholestasis: A case report and review of literature 被引量:3
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作者 Mariano Piazzolla Nicola Castellaneta +7 位作者 Antonio Novelli Emanuele Agolini Dario Cocciadiferro Leonardo Resta Loren Duda Michele Barone Enzo Ierardi Alfredo Di Leo 《World Journal of Hepatology》 2020年第2期64-71,共8页
BACKGROUND Benign recurrent intrahepatic cholestasis is a genetic disorder with recurrent cholestatic jaundice due to ATP8B1 and ABCB11 gene mutations encoding for hepato-canalicular transporters.Herein,we firstly pro... BACKGROUND Benign recurrent intrahepatic cholestasis is a genetic disorder with recurrent cholestatic jaundice due to ATP8B1 and ABCB11 gene mutations encoding for hepato-canalicular transporters.Herein,we firstly provide the evidence that a nonsense variant of ATP8B1 gene(c.1558A>T)in heterozygous form is involved in BRIC pathogenesis.CASE SUMMARY A 29-year-old male showed severe jaundice and laboratory tests consistent with intrahepatic cholestasis despite normal gamma-glutamyltranspeptidase.Acute and chronic liver diseases with viral,metabolic and autoimmune etiology were excluded.Normal intra/extra-hepatic bile ducts were demonstrated by magnetic resonance.Liver biopsy showed:Cholestasis in the centrilobular and intermediate zones with bile plugs and intra-hepatocyte pigment,Kupffer’s cell activation/hyperplasia and preserved biliary ducts.Being satisfied benign recurrent intrahepatic cholestasis diagnostic criteria,ATP8B1 and ABCB11 gene analysis was performed.Surprisingly,we found a novel nonsense variant of ATP8B1 gene(c.1558A>T)in heterozygosis.The variant was confirmed by Sanger sequencing following a standard protocol and tested for familial segregation,showing a maternal inheritance.Immunohistochemistry confirmed a significant reduction of mutated gene related protein(familial intrahepatic cholestasis 1).The patient was treated with ursodeoxycholic acid 15 mg/kg per day and colestyramine 8 g daily with total bilirubin decrease and normalization at the 6th and 12th mo.CONCLUSION A genetic abnormality,different from those already known,could be involved in familial intrahepatic cholestatic disorders and/or pro-cholestatic genetic predisposition,thus encouraging further mutation detection in this field. 展开更多
关键词 Benign recurrent intrahepatic cholestasis atp8b1/ABCB11 genes Jaundice Heterozygous variant of atp8b1 gene(c.1558A>T) Familial inheritance Case report
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Diagnosis and management of benign recurrent intrahepatic cholestasis and psychosocial stressors in an adolescent:A case report
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作者 Ya-Xin Xu Xiao-Xuan Niu +2 位作者 Bei-Li Xu Yuan Ji Qun-Yan Yao 《World Journal of Clinical Cases》 SCIE 2024年第20期4427-4433,共7页
BACKGROUND Benign recurrent intrahepatic cholestasis(BRIC)is a rare autosomal recessive disorder,characterized by episodes of intense pruritus,elevated serum levels of alkaline phosphatase and bilirubin,and near-norma... BACKGROUND Benign recurrent intrahepatic cholestasis(BRIC)is a rare autosomal recessive disorder,characterized by episodes of intense pruritus,elevated serum levels of alkaline phosphatase and bilirubin,and near-normal-glutamyl transferase.These episodes may persist for weeks to months before spontaneously resolving,with patients typically remaining asymptomatic between occurrences.Diagnosis entails the evaluation of clinical symptoms and targeted genetic testing.Although BRIC is recognized as a benign genetic disorder,the triggers,particularly psychosocial factors,remain poorly understood.CASE SUMMARY An 18-year-old Chinese man presented with recurrent jaundice and pruritus after a cold,which was exacerbated by self-medication involving vitamin B and paracetamol.Clinical and laboratory evaluations revealed elevated levels of bilirubin and liver enzymes,in the absence of viral or autoimmune liver disease.Imaging excluded biliary and pancreatic abnormalities,and liver biopsy demonstrated centrilobular cholestasis,culminating in a BRIC diagnosis confirmed by the identification of a novel ATP8B1 gene mutation.Psychological assessment of the patient unveiled stress attributable to academic and familial pressures,regarded as potential triggers for BRIC.Initial relief was observed with ursodeoxycholic acid and cetirizine,followed by an adjustment of the treatment regimen in response to elevated liver enzymes.The patient's condition significantly improved following a stress-related episode,thanks to a comprehensive management approach that included psychosocial support and medical treatment.CONCLUSION Our research highlights genetic and psychosocial influences on BRIC,emphasizing integrated diagnostic and management strategies. 展开更多
关键词 Benign recurrent intrahepatic cholestasis genetic testing Psychosocial factors atp8b1 gene mutation CHOLESTASIS JAUNDICE PRURITUS Case report
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ATP8B1基因突变致良性复发性肝内胆汁淤积症1例报道并临床及分子病理特点分析 被引量:2
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作者 赵俊波 袁林 +6 位作者 周颖蕾 张海辉 郭琼雅 张延瑞 李健 王春荣 丁松泽 《胃肠病学和肝病学杂志》 CAS 2020年第12期1437-1440,共4页
良性复发性肝内胆汁淤积症(benign recurrent intrahepatic cholestasis,BRIC)是一种临床较为少见的家族性肝内胆汁淤积症,为常染色体隐性遗传疾病,主要由ATP8B1或ABCB11基因突变所致。BRIC的首次发病可以从任何年龄开始,持续数周至数... 良性复发性肝内胆汁淤积症(benign recurrent intrahepatic cholestasis,BRIC)是一种临床较为少见的家族性肝内胆汁淤积症,为常染色体隐性遗传疾病,主要由ATP8B1或ABCB11基因突变所致。BRIC的首次发病可以从任何年龄开始,持续数周至数月。疾病可以在患者的一生中多次发生,但不引起慢性肝病。发病时主要症状是严重的黄疸,肝功能检测胆红素指标明显升高,以直接胆红素为主。间歇期患者的生化指标和影像学检查无明显异常。本文通过对ATP8B1基因突变引起的典型临床表现分析BRIC的临床及分子病理特点,以加强临床医师对此类肝内胆汁淤积症遗传学病因的深入了解,并有助于在临床实践中及时和正确地诊断相关疾病。 展开更多
关键词 良性复发性肝内胆汁淤积症 黄疸 瘙痒 atp8b1基因突变
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3例良性复发性肝内胆汁淤积症患者临床特点分析 被引量:1
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作者 汪芾 汪皓琪 +2 位作者 周怡 周达 方颖 《实用肝脏病杂志》 CAS 2023年第1期47-50,共4页
目的总结和分析良性复发性肝内胆汁淤积症(BRIC)患者的临床特征.方法回顾性分析3例在复旦大学附属中山医院诊治的BRIC患者的一般情况、临床表现、实验室检查、影像学检查、病理学检查和分子遗传学检查等临床资料.结果3例患者均为男性,... 目的总结和分析良性复发性肝内胆汁淤积症(BRIC)患者的临床特征.方法回顾性分析3例在复旦大学附属中山医院诊治的BRIC患者的一般情况、临床表现、实验室检查、影像学检查、病理学检查和分子遗传学检查等临床资料.结果3例患者均为男性,首次发病年龄小于20岁,除外其他已知的可致胆汁淤积的病因;3例患者疾病均反复发作,但具有一定的自限性,发作时有黄疸和皮肤瘙痒表现,其中2例伴大便不规律、腹胀和食欲下降;实验室检查显示血清总胆红素和直接胆红素、碱性磷酸酶和总胆汁酸水平显著升高,而γ-谷氨酰转肽酶和转氨酶水平正常或轻度升高;MRCP检查均未见有肝内外胆管异常;2例肝组织病理学检查提示肝细胞明显胆汁淤积伴毛细胆管栓塞形成;3例患者均有功能预测为"潜在有害"或致病分级为"可能致病"的ATP8B1基因突变位点检出.结论目前,BRIC病例报道较少,发病机制未完全明确,诊断较困难.临床医生应在排除其他常见肝损伤病因后,综合分析其临床表现、辅助检查和病理学检查结果进行综合临床诊断.对于临床高度怀疑BRIC的患者,应尽早行分子遗传学检查,以明确诊断,指导治疗. 展开更多
关键词 良性复发性肝内胆汁淤积症 临床特征 atp8b1基因突变
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进行性家族性肝内胆汁淤积症2例临床及遗传学分析 被引量:3
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作者 何佳倩 孙长宇 +1 位作者 乔芳芳 郑利民 《临床儿科杂志》 CAS CSCD 北大核心 2021年第7期491-494,共4页
目的探讨进行性家族性肝内胆汁淤积症(PFIC)的临床及遗传学特征。方法回顾分析2例PFIC患儿的临床资料和基因检测结果。结果例1,女性,15岁,临床表现以黄疸、皮肤瘙痒、白色黏稠便为主,伴脾大;例2,男性,3岁6月龄,表现为黄疸、皮肤瘙痒。... 目的探讨进行性家族性肝内胆汁淤积症(PFIC)的临床及遗传学特征。方法回顾分析2例PFIC患儿的临床资料和基因检测结果。结果例1,女性,15岁,临床表现以黄疸、皮肤瘙痒、白色黏稠便为主,伴脾大;例2,男性,3岁6月龄,表现为黄疸、皮肤瘙痒。全外显子测序发现,例1的ATP8B1基因存在c.2652G>C和c.1573C>T复合杂合变异,其中c.2652G>C变异遗传自父亲,c.1573C>T变异遗传自母亲,c.2652G>C是既往未见报道的新变异位点。例2的ABCB11基因存在c.2606A>C纯合错义变异,来源于父母。结论基因检测有助于PFIC的明确诊断及治疗。此研究丰富了ATP8B1致病变异谱。 展开更多
关键词 进行性家族性肝内胆汁淤积症 atp8b1基因 ABCB11基因 黄疸 基因分析
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进行性家族性肝内胆汁淤积症1型1例临床特点和ATP8B1基因突变分析 被引量:3
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作者 程映 郭丽 宋元宗 《中国当代儿科杂志》 CAS CSCD 北大核心 2016年第8期751-756,共6页
进行性家族性肝内胆汁淤积症1型(PFIC1)是一种ATP8B1基因突变导致的以进行性胆汁淤积为主要临床表现的常染色体隐性遗传病。该文报道1例经ATP8B1突变分析证实的PFIC1患儿临床和遗传学特征。患儿为1岁2个月的男孩,因发现皮肤黄染10月余... 进行性家族性肝内胆汁淤积症1型(PFIC1)是一种ATP8B1基因突变导致的以进行性胆汁淤积为主要临床表现的常染色体隐性遗传病。该文报道1例经ATP8B1突变分析证实的PFIC1患儿临床和遗传学特征。患儿为1岁2个月的男孩,因发现皮肤黄染10月余就诊。发病后先后在多家医院诊治,病因不详,疗效不佳。体查发现皮肤巩膜黄染,肝右肋下4 cm,剑突下2 cm,脾左肋下2 cm可触及。肝功能检查发现血清胆汁酸、胆红素、转氨酶等均升高,而γ-谷氨酰转肽酶水平未见异常。诊断为遗传性胆汁淤积症,但病因不明。1岁8个月时经胆囊结肠Roux-en-Y吻合术,之后患儿黄疸迅速消退。5岁1个月时经全基因组测序及Sanger测序验证,发现患儿为ATP8B1基因突变c.2081T>A(p.I694N)的纯合子,最终确诊为PFIC1。电话随访至6岁,黄疸未再反复,但远期预后有待观察。 展开更多
关键词 进行性家族性肝内胆汁淤积症 atp8b1基因 全基因组测序 胆囊结肠旁路手术 儿童
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