目的:通过检测慢性高原病(CMS)骨髓红细胞中糖代谢的关键酶和葡萄糖转运蛋白,分析其与血红蛋白的关系,探求红细胞增多的发病机制。方法:选取青海省人民医院2019年1月至2020年12月住院的20例CMS患者作为CMS组,白细胞>3.5×109/L...目的:通过检测慢性高原病(CMS)骨髓红细胞中糖代谢的关键酶和葡萄糖转运蛋白,分析其与血红蛋白的关系,探求红细胞增多的发病机制。方法:选取青海省人民医院2019年1月至2020年12月住院的20例CMS患者作为CMS组,白细胞>3.5×109/L的20例愿意接受骨髓穿刺且结果正常的男性作为对照组,PCR检测骨髓CD71+细胞中糖代谢关键酶和葡萄糖转运蛋白m RNA的表达,蛋白免疫印迹法检测骨髓CD71+细胞中糖代谢关键酶和葡萄糖转运蛋白的表达,ELISA检测骨髓上清及血清中葡萄糖、乳酸及2,3-二磷酸甘油酸水平,比较两组糖代谢关键酶和葡萄糖转运蛋白m RNA和蛋白的水平,以及葡萄糖、乳酸及2,3-二磷酸甘油酸水平,采用Pearson相关分析糖代谢关键酶和葡萄糖转运蛋白与血红蛋白之间的相关性。结果:CMS组HK2、GLUT1和GLUT2 m RNA的表达水平高于对照组(P<0.001),而HK1、OGDH和COX5B m RNA与对照组比较无差异;CMS组HK2、GLUT1和GLUT2蛋白的表达水平均高于对照组(P<0.05);CMS组骨髓上清及血清葡萄糖、乳酸的水平与对照组比较无差异,而骨髓上清2,3-二磷酸甘油酸水平高于对照组(P<0.001)。HK2和GLUT2蛋白与血红蛋白之间均呈正相关(r=0.511,0.717)。结论:CMS患者可通过增加HK2的表达增加糖酵解,通过GLUT1和GLUT2的高表达促进葡萄糖的利用以满足供能的需要。展开更多
BACKGROUND The aim of the present study was to enhance understanding of the diagnosis and treatment of atypical hereditary spherocytosis(HS),and to broaden the diagnostic thoughts of physicians for patients with jaund...BACKGROUND The aim of the present study was to enhance understanding of the diagnosis and treatment of atypical hereditary spherocytosis(HS),and to broaden the diagnostic thoughts of physicians for patients with jaundice.CASE SUMMARY A 28-year-old male presented with jaundice,bile duct stone,and splenomegaly,but without anemia.Other causes of jaundice were excluded,and gene se-quencing revealed a novel heterozygous variant of c.1801C>T(p.Q601X)in exon 14 of the SPTB(NM_01355436)gene on chromosome 14(chr14:65260580)in the patient’s blood;the biological parents and child of the patient did not have similar variants.A splenectomy was performed on the patient and his bilirubin levels returned to normal after surgery.Thus,a novel gene variant causing HS was identified.This variant may result in the truncation ofβ-hemoglobin in the erythrocyte membrane,leading to loss of normal function,jaundice,and hemolytic anemia.The clinical manifestations of the patient were hyperjaundice and an absence of typical hemolysis during the course of the disease,which caused challenges for diagnosis by the clinicians.CONCLUSION Following a definitive diagnosis,genetic testing and response to treatment identified a gene variant site for a novel hemolytic anemia.展开更多
文摘目的:通过检测慢性高原病(CMS)骨髓红细胞中糖代谢的关键酶和葡萄糖转运蛋白,分析其与血红蛋白的关系,探求红细胞增多的发病机制。方法:选取青海省人民医院2019年1月至2020年12月住院的20例CMS患者作为CMS组,白细胞>3.5×109/L的20例愿意接受骨髓穿刺且结果正常的男性作为对照组,PCR检测骨髓CD71+细胞中糖代谢关键酶和葡萄糖转运蛋白m RNA的表达,蛋白免疫印迹法检测骨髓CD71+细胞中糖代谢关键酶和葡萄糖转运蛋白的表达,ELISA检测骨髓上清及血清中葡萄糖、乳酸及2,3-二磷酸甘油酸水平,比较两组糖代谢关键酶和葡萄糖转运蛋白m RNA和蛋白的水平,以及葡萄糖、乳酸及2,3-二磷酸甘油酸水平,采用Pearson相关分析糖代谢关键酶和葡萄糖转运蛋白与血红蛋白之间的相关性。结果:CMS组HK2、GLUT1和GLUT2 m RNA的表达水平高于对照组(P<0.001),而HK1、OGDH和COX5B m RNA与对照组比较无差异;CMS组HK2、GLUT1和GLUT2蛋白的表达水平均高于对照组(P<0.05);CMS组骨髓上清及血清葡萄糖、乳酸的水平与对照组比较无差异,而骨髓上清2,3-二磷酸甘油酸水平高于对照组(P<0.001)。HK2和GLUT2蛋白与血红蛋白之间均呈正相关(r=0.511,0.717)。结论:CMS患者可通过增加HK2的表达增加糖酵解,通过GLUT1和GLUT2的高表达促进葡萄糖的利用以满足供能的需要。
基金Supported by Natural Science Foundation of Gansu Province,No. 21JR1RA070Construction of Clinical Medical Research Center,No. 21JR7RA392
文摘BACKGROUND The aim of the present study was to enhance understanding of the diagnosis and treatment of atypical hereditary spherocytosis(HS),and to broaden the diagnostic thoughts of physicians for patients with jaundice.CASE SUMMARY A 28-year-old male presented with jaundice,bile duct stone,and splenomegaly,but without anemia.Other causes of jaundice were excluded,and gene se-quencing revealed a novel heterozygous variant of c.1801C>T(p.Q601X)in exon 14 of the SPTB(NM_01355436)gene on chromosome 14(chr14:65260580)in the patient’s blood;the biological parents and child of the patient did not have similar variants.A splenectomy was performed on the patient and his bilirubin levels returned to normal after surgery.Thus,a novel gene variant causing HS was identified.This variant may result in the truncation ofβ-hemoglobin in the erythrocyte membrane,leading to loss of normal function,jaundice,and hemolytic anemia.The clinical manifestations of the patient were hyperjaundice and an absence of typical hemolysis during the course of the disease,which caused challenges for diagnosis by the clinicians.CONCLUSION Following a definitive diagnosis,genetic testing and response to treatment identified a gene variant site for a novel hemolytic anemia.
