BACKGROUND Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1(SLCO2A1)(CEAS)is a rare autosomal recessive hereditary disease characterized by anemia,hypoproteinemia,abdomina...BACKGROUND Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1(SLCO2A1)(CEAS)is a rare autosomal recessive hereditary disease characterized by anemia,hypoproteinemia,abdominal pain,diarrhea,and multiple shallow ulcers in the small intestine.Genetic analysis for SLCO2A1 mutations has identified more than 10 variant types,including the mostly reported c.940+1G>A splice site mutation.CASE SUMMARY Herein,we described a 33-year-old female patient who was admitted for anemia,edema,and a positive fecal occult blood test,unaccompanied by abdominal pain and diarrhea.She was diagnosed with CEAS due to compound heterozygous variants,c.940+1G>cA(splice-5)and c.1658T>A(p.Ile553Asn)in SLCO2A1,which had not been previously reported.Importantly,we reviewed 132 reported CEAS patients,which showed that anemia(87.3%)and hypoproteinemia(81%)were the most common symptoms.Nearly 25.8%of patients only had a positive result of fecal occult blood,without any symptoms of gastrointestinal bleeding.CONCLUSION In conclusion,fecal tests should be repeated in patients with anemia and edema to find clues for chronic enteropathy,including the rare cause-CEAS.展开更多
基金Supported by the National Natural Science Foundation of China(General Program),No.82000493Peking University People’s Hospital Scientific Research Development Funds,No.RDJP2023-09.
文摘BACKGROUND Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1(SLCO2A1)(CEAS)is a rare autosomal recessive hereditary disease characterized by anemia,hypoproteinemia,abdominal pain,diarrhea,and multiple shallow ulcers in the small intestine.Genetic analysis for SLCO2A1 mutations has identified more than 10 variant types,including the mostly reported c.940+1G>A splice site mutation.CASE SUMMARY Herein,we described a 33-year-old female patient who was admitted for anemia,edema,and a positive fecal occult blood test,unaccompanied by abdominal pain and diarrhea.She was diagnosed with CEAS due to compound heterozygous variants,c.940+1G>cA(splice-5)and c.1658T>A(p.Ile553Asn)in SLCO2A1,which had not been previously reported.Importantly,we reviewed 132 reported CEAS patients,which showed that anemia(87.3%)and hypoproteinemia(81%)were the most common symptoms.Nearly 25.8%of patients only had a positive result of fecal occult blood,without any symptoms of gastrointestinal bleeding.CONCLUSION In conclusion,fecal tests should be repeated in patients with anemia and edema to find clues for chronic enteropathy,including the rare cause-CEAS.
文摘目的:分析脾虚肝癌小鼠有机阴离子转运肽2a1(Oatp2a1)m RNA和蛋白的表达情况,探讨脾虚因素对肝癌的影响及其机制。方法:60只小鼠分成正常对照组、原位移植肝癌组和脾虚原位移植肝癌组,建立脾虚原位移植肝癌小鼠模型,测量各组肝癌肿瘤的体积,采用RT-PCR和Western Blot的方法检测小鼠各组织中Oatp2a1的表达。结果:脾虚原位移植肝癌组小鼠肝癌肿瘤体积明显大于原位移植肝癌组(P<0.01),肝癌造模后小鼠各组织Oatp2a1的表达发生了变化,癌组织中Oatp2a1表达均明显高于相应组肝组织(P<0.01),与原位移植肝癌组小鼠比较,脾虚原位移植肝癌组小鼠胃、肝和脾组织Oatp2a1 m RNA表达明显降低(P<0.01),癌组织表达则明显升高(P<0.01)。结论:脾虚因素能促进小鼠肝癌的发生和发展,其机制可能是脾虚内环境下各组织Oatp2a1的异常表达,进一步提示脾虚湿浊转运障碍与肝癌密切相关。
