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.
文摘目的分析单侧甲状腺乳头状癌(unilateral papillary thyroid carcinoma,uPTC)发生对侧中央区淋巴结(contralateral central lymph nodes,Cont-CLNs)转移的临床高危因素,探讨Cont-CLNs清扫指征。方法回顾性分析2010年1月~2017年12月行甲状腺全切及双颈中央区淋巴结清扫的136例uPTC的临床病例资料,采用单因素分析和多因素Logistic回归的方法研究Cont-CLNs转移与uPTC患者各项临床病理特征的关系,构建Cont-CLNs转移的风险预测模型,ROC曲线分析其预测价值。结果本组136例uPTC患者中,患侧中央区淋巴结(ipsilateral central lymph nodes,Ipsi-CLNs)转移率48.53%(66/136),Cont-CLNs转移率19.85%(27/136),Ipsi-CLNs未转移而Cont-CLNs转移(跳跃性转移)为5.15%(7/136)。单因素结果表明,ContCLNs转移与uPTC患者的性别、病灶部位、肿瘤最大径、被膜侵犯及Ipsi-CLNs转移有关(P<0.05),而与年龄、病灶数目、合并桥本氏甲状腺炎及侧颈淋巴结转移无明显关系(P>0.05)。Logistic回归结果显示,性别(男性)、被膜侵犯及Ipsi-CLNs转移是Cont-CLNs转移的独立预测因素,该模型预测Cont-CLNs转移的曲线下面积(AUC)为0.764(95%置信区间为0.658～0.871),当取约登指数最大时,其预测的敏感性为59.26%,特异性为83.49%。结论单侧甲状腺乳头状癌伴有男性、被膜侵犯及Ipsi-CLNs转移等高危特征时应警惕Cont-CLNs转移,可考虑行Cont-CLNs清扫。
基金support from the National Natural Science Foundation of China(No.81160412)the Natural Science Foundation of Jiangxi,China(No.2010GZN0106)the Science and Technology Item of the Education Department of Jiangxi Province(No.GJJ11626)
