遗传性果糖不耐受症

遗传性果糖不耐受症（HFI）是一种罕见的、由于先天性醛缩酶B缺陷导致的果糖代谢病。为常染色体隐性遗传性疾病。特征是摄取果糖、蔗糖或山梨醇后发生严重的低血糖。若不及时终止此类食物，会导致肝肾功能损伤及生长发育障碍。本病诊断比较困难，治疗主要以对症治疗和饮食控制为主。本文就遗传性果糖不耐受症的临床生化特征、诊治方法及醛缩酶B损伤的分子学基础进行综述，为临床早期发现、早期诊断、早期治疗遗传性果糖不耐受症提供参考。     

血清视黄醇结合蛋白4在妊娠糖尿病患者中显著升高

探讨中国汉族人群血清视黄醇结合蛋白4(RBP4)水平与妊娠糖尿病的关系.收集2005年7月至2007年12月在瑞金医院妇产科行常规产前检查的孕妇195例(妊娠糖尿病组99例,正常糖耐量组96例),同时收集65例非妊娠期健康育龄期妇女作为对照组,所有受试者均排除急慢性疾病,并统一用酶联免疫法检测血清RBP4水平.与非妊娠正常对照组相比,妊娠期妇女血清RBP4水平均明显升高,妊娠糖尿病患者血清RBP4水平较正常妊娠妇女显著升高[(43.04±1.85对33.84±2.17)ms/L,P<0.01].在妊娠期妇女中,多元逐步回归分析显示,胰岛素抵抗指数(HOMA-IR)和甘油三酯是血清RBP4水平升高的独市危险因素(r2=0.165).本研究结果提示,妊娠期妇女血清RBP4水平较非妊娠妇女显著升高,而与正常孕妇相比,妊娠糖尿病患者血清RBP4水平更高;在妊娠期妇女中胰岛素抵抗和甘油三酯水平与RBP4水平显著正相关.     

多囊卵巢综合征的治疗方法

多囊卵巢综合征(PCOS)是一种异质性内分泌紊乱性疾病,以雄激素过多及长期持续无排卵为特征,也是导致妇女月经紊乱的最常见的原因.PCOS的病理机制至今尚未完全明了,治疗上主要以对症治疗和预防潜在疾病为主.文章就近年来PCOS的常用治疗方法及治疗新进展进行综述.     

空腹血清游离脂肪酸与2型糖尿病的关系

目的 2型糖尿病(T2DM)患者血清游离脂肪酸(FFA)水平的变化及与糖代谢、胰岛素抵抗各指标间的相关性,并探讨影响T2DM的危险因素。方法通过口服糖耐量试验(OGTT)筛选105例未经药物治疗的T2DM患者和66名健康人(正常对照组),分别测定其血浆葡萄糖(PG)和胰岛素(Ins)水平,计算胰岛素抵抗指数(HOMA-IR)和胰岛素分泌指数(HOMA-IS),同时检测空腹血清FFA。对血清FFA浓度与性别、年龄、体重、体重指数(BMI)、0～3 h PG和Ins以及HOMA-IR、HOMA-IS进行相关性分析。以T2DM是否发病为因变量Y(T2DM组=1,正常对照组=0),性别、年龄、体重、BMI、HOMA-IR、HOMA-IS和FFA为自变量,做Logistic回归分析。结果 T2DM组HOMA-IR、HOMA-IS和血清FFA水平与正常对照组比较差异均有统计学意义(P<0.01、P<0.001)。相关分析发现,空腹血清FFA与0 h PG、0.5 h PG、1 h PG、2 h PG、3 h PG、3 h Ins、HOMA-IR呈弱正相关(r分别为0.340、0.281、0.282、0.307、0.302、0.193、0.225,P均<0.05)。Logistic回归分析显示血清FFA是T2DM的重要风险因素[OR=14.05,95%可信区间(CI):1.87～105.55]。结论血清FFA水平升高可能影响机体糖动态平衡,与胰岛素抵抗和T2DM发病密切相关。     

多囊卵巢综合征的治疗方法

多囊卵巢综合征(PCOS)是一种异质性内分泌紊乱性疾病,以雄激素过多及长期持续无排卵为特征,也是导致妇女月经紊乱的最常见的原因.PCOS的病理机制至今尚未完全明了,治疗上主要以对症治疗和预防潜在疾病为主.文章就近年来PCOS的常用治疗方法及治疗新进展进行综述.     

肥胖妇女血清促炎症性细胞因子白介素18水平的变化

目的 探讨肥胖妇女血清白介素18(IL-18)水平的变化. 方法 静脉葡萄糖耐量试验评估121名肥胖绝经前妇女的胰岛素抵抗程度和胰岛β细胞分泌功能.测定血清TL-18水平并对影响因素进行相关性分析. 结果正常糖耐量、糖调节受损和糖尿病三组间的胰岛素敏感指数无明显差异,急性胰岛素对葡萄糖反应指数(AIRg指数)依次显著递减;血清IL-18水平显著递增,且与FPG、2hPG、HbA_1c、TG显著正相关,与AIRg指数显著负相关. 结论 IL-18随着TG、PG水平的升高而升高,与胰岛β细胞功能显著关联.探讨促炎症性细胞因子IL-18在糖尿病发生中的作用很有意义.     

多囊卵巢综合征伴和不伴高雄激素血症的患者临床表型及内分泌代谢指标比较

目的:总结分析多囊卵巢综合征(PCOS)患者的内分泌代谢特征,并比较PCOS伴高雄激素血症(PCOS/HA)患者与PCOS不伴高雄激素血症(PCOS/NHA)患者间的临床表型、内分泌代谢差异。方法:选择未经治疗的PCOS患者241例和正常女性对照者50例,测定其身高、体重、体脂含量、腰围、臀围、血压、血脂、血糖、血清胰岛素及性激素水平,并行卵巢超声检查,采用稳态模型法评估胰岛素抵抗指数(HOMA-IR)及胰岛β细胞功能(HOMA-β)。结果:①PCOS患者较正常女性对照者有更高的体质指数(BMI)、体脂含量、血糖、胰岛素、HOMA-IR、HOMA-β、血脂水平及性激素紊乱(P<0.05;1.5(1.2～5.1)比1.4(0.8～2.0),P<0.05;130.0(102.8～304.0)比97.0(63.7～168.0),P     

血清视黄醇结合蛋白4在妊娠糖尿病患者中显著升高

To investigate the relationship between serum retinol-binding protein 4(RBP4) and gestational diabetes mellitus (GDM) in Chinese Han pregnant women.195 (23-42 years) pregnant women were recruited (July 2005 to December 2007) from the Department of Gynecology and Obstetric in Ruijin Hospital during their visiting for routine prenatal examination.99 subjects belonged to GDM group,and 96 belonged to the group with normal glucose tolerance (NGT).65 non-pregnant healthy women served as control.Serum RBP4 was measured using sandwich enzyme linked immunosorbent assay (ELISA).Pregnant women had higher level of serum RBP4 than that of non-pregnant control.The concentration of serum RBP4 was significantly increased in GDM group as compared with NGT group[(43.04±1.85 vs 33.84±2.17) rag/L,P<0.01].Multiple stepwise regression analysis showed that triglycerides and homeostasis assessment for insulin resistance (HOMA-IR) were independent variables of RBP4 (r2 =0.165) in pregnant women.The results suggest that serum RBP4 level is significantly increased in pregnant women.Women with GDM had even higher RBP4 level than that of normal pregnant women,and RBP4 levele was positively correlated with triglycerides and HOMA-IR.     

血清视黄醇结合蛋白4在妊娠糖尿病患者中显著升高

To investigate the relationship between serum retinol-binding protein 4(RBP4) and gestational diabetes mellitus (GDM) in Chinese Han pregnant women.195 (23-42 years) pregnant women were recruited (July 2005 to December 2007) from the Department of Gynecology and Obstetric in Ruijin Hospital during their visiting for routine prenatal examination.99 subjects belonged to GDM group,and 96 belonged to the group with normal glucose tolerance (NGT).65 non-pregnant healthy women served as control.Serum RBP4 was measured using sandwich enzyme linked immunosorbent assay (ELISA).Pregnant women had higher level of serum RBP4 than that of non-pregnant control.The concentration of serum RBP4 was significantly increased in GDM group as compared with NGT group[(43.04±1.85 vs 33.84±2.17) rag/L,P<0.01].Multiple stepwise regression analysis showed that triglycerides and homeostasis assessment for insulin resistance (HOMA-IR) were independent variables of RBP4 (r2 =0.165) in pregnant women.The results suggest that serum RBP4 level is significantly increased in pregnant women.Women with GDM had even higher RBP4 level than that of normal pregnant women,and RBP4 levele was positively correlated with triglycerides and HOMA-IR.     

临床病例讨论拒甜食、反复心慌、乏力——遗传性果糖不耐受症

一、病例摘要 患者,女性,34岁.因"拒甜食34年,反复心慌,乏力,四肢麻木4年"于2006年8月1日入院.