Gitelman综合征的表型特点及性别因素对表型的影响  

Phenotype of Chinese patients with Giteiman syndrome and the effect of gender on the phenotype

作　　者：秦岭[1] 邵乐平[1] 任红[1] 王伟铭[1] 张文[1] 陈楠[1] 

机构地区：[1]上海交通大学医学院附属瑞金医院肾脏科,200025

出　　处：《中华肾脏病杂志》2009年第7期532-537,共6页Chinese Journal of Nephrology

基　　金：国家自然科学荩金（30670972）;上海市卫生局重点学科基金（05Ⅲ001）;上海市重点学科（T0201）;上海市卫生局重点课题（2003ZD002）

摘　　要：目的探讨中同人Gitelman综合征（GS）的表型特点以及性别因素对GS表犁的影响。方法分析了28例GS患者的临床表现以及血、尿电解质、血pH、血管紧张素、血醛同酮、血压等水平，比较男性、女性GS患者两组之间的差异。临床表现症状通过问卷调查获得，肾小球滤过率（GFR）通过简化MDRD公式（成人）、Schwartz公式（18岁以下青少年）或同位素法评估。结果男性患者中夜尿增多的比例显著高于女性患者（P〈0．05），但发病年龄、四肢乏力、软瘫、手足抽搐等症状的发生差异无统计学意义。男性患者血肌酐明显高于女性患者[（82．7±43．3）μmol／L比（58．7±12．7）μmol／L1，但经体表面积校正后的肾小球滤过率差异并无统计学意义[（143．0＋48．4）ml·min^-1（1．73m^2）。比（138．0±38．9）ml·min^-1·（1．73m^2）^-1。男性GS患者尿钾排泄分数和尿氯排泄分数显著高于女性患者（33．0％±22．9％比17．0％±4．7％；2．30％±1．59％比1．23％＋0．39％，均P〈0．05），但两组间血钾、血氯、血镁、血碳酸氢根离子、血管紧张素、血醛同酮、尿pH、24h尿钾、尿氯离子排泄总量差异均无统计学意义。3例肾功能受损的患者均为男性。结论男性GS患者的夜尿发生要多于女性患者，男性GS患者的肾功能可能更易受损，性别因素对表型的影响可能与雌激素影响钠氯共转子在远端小管的密度有关。Objective To investigate the clinical features and the effect of gender differences on phenotype of Gitelman syndrome （GS） patients. Methods Clinical features and biochemical parameters were compared and analyzed to look for correlation between male and female GS patients. Results More male patients suffered from nocturia than female patients （P 〈 0.05）, and there were no statistical differences in other clinical features between males and females. The level of serum creatinine was higher in male patients than that in female ones [（82.7±43.3）μmol/L vs （58.7 ±12.7）μmol/L], but estimated glomerular filtration rate was similar [（143.0±48.4） ml·min^-1·（1.73 m^2）^-1 vs （138.0±38.9） ml·min^ -1·（1.73 m2）-a] between male patients and female patients. The urinary potassium and chloride excretion fraction were higher in male group than those in female group （33.0%±22.9% vs 17.0%±4.7%; 2.30%±1.59% vs 1.23%±0.39%, P〈 0.05, respectively）. Statistical differences were not observed in other laboratory parameters. Three patients with impaired renal function were all male. Conclusions More male patients suffer from nocturia than female patients. Male patients seem to be prone to impaired renal function. It is speculated that different density of sodium-chloride cotransporter in renal tubule may account for gender differences.

关 键 词：GITELMAN综合征 表型 突变 性别 

分 类 号：R692.6[医药卫生—泌尿科学]