21-羟化酶缺陷症患者血脂异常发生情况及其相关因素分析  

Prevalence and related factors of dyslipidemia in patients with 21-hydroxylase deficiency

作　　者：高寅洁 孙邦 卢琳[1] 伍学焱[1] 茅江峰[1] 王曦[1] 童安莉[1] 陈适[1] 聂敏[1] Gao Yinjie;Sun Bang;Lu Lin;Wu Xueyan;Mao Jiangfeng;Wang Xi;Tong Anli;Chen Shi;Nie Min(Department of Endocrinology,Peking Union Medical College Hospital,Key Laboratory of Endocrinology,National Health Commission,Beijing 100730,China)

机构地区：[1]北京协和医院内分泌科,国家卫生健康委员会内分泌重点实验室,北京100730

出　　处：《中华医学杂志》2021年第2期127-130,共4页National Medical Journal of China

基　　金：国家自然科学基金(81971375);国家重点研发计划(2016YFC0905102)。

摘　　要：目的分析21-羟化酶缺陷症(21-OHD)患者血脂异常发生情况及其相关因素。方法纳入2016年1月至2018年1月于北京协和医院就诊的205例21-OHD患者。由病历资料获得患者基本情况、糖皮质激素替代治疗情况和实验室检查结果等,采用Sanger测序和多重连接探针扩增技术进行CYP21A2基因分型。描述21-OHD患者血脂异常情况、不同血脂状态21-OHD患者基本情况和相关激素水平,采用logistic回归模型分析21-OHD患者血脂异常相关因素。结果205例21-OHD患者年龄[岁,M(Q1,Q3)]为17.0(8.3,25.0),其中男51例(24.9%)。根据CYP21A2基因分型,Null组16例,A组26例,B组105例,C组27例,D组31例。血脂异常发生率为29.3%(60/205),男女血脂异常发生率分别为37.3%(19/51)和26.6%(41/154)。血脂异常的男性21-OHD患者血总皮质醇水平[nmol/L,M(Q1,Q3)]为0.17(0.06,0.35),体质指数[kg/m^(2),M(Q1,Q3)]为25.76(17.01,30.45),均高于血脂正常者[分别为0.04(0.02,0.21)和18.83(16.53,23.88)],P值均<0.05。血脂异常的女性21-OHD患者孕酮水平(nmol/L)、体质指数(kg/m^(2))和年龄(岁)[M(Q1,Q3)]分别为74.40(50.97,98.52)、23.09(21.78,27.78)和23.00(16.50,28.00),均高于血脂正常组[分别为52.81(33.41,68.85)、21.55(18.63,25.71)和18.00(9.50,25.00)],P值均<0.05。孕酮每升高1 nmol/L,血脂异常的风险增加5.0%[OR(95%CI):1.05(1.01,1.09)]。结论21-OHD患者血脂异常发生率较高,孕酮水平与血脂异常有关。Objective To analyze the prevalence and the related factors of dyslipidemia in 21-hydroxylase deficiency(21-OHD)patients.Methods A total of 205 patients with 21-OHD were recruited in Peking Union Medical College Hospital from January 2016 to January 2018.The basic information,glucocorticoid replacement therapy,and laboratory examination results of patients were obtained from medical records.The genotypes of CYP21A2 were identified by Sanger sequencing and multiplex ligation dependent probe amplification.The prevalence of dyslipidemia among 21-OHD patients,basic information and related hormone levels of 21-OHD patients with different status of blood lipid were described.Logistic regression model was used to analyze the related factors of dyslipidemia in 21-OHD patients.Results The age of subjects was 17.0(8.3,25.0)years old,including 51 males(24.9%).According to CYP21A2 genotypes,there were 16 cases in Null group,26 cases in Group A,105 cases in group B,27 cases in group C,and 31 cases in group D.The incidence of dyslipidemia was 29.3%(60/205),among which 37.3%(19/51)in male and 26.6%(41/154)in female patients,respectively.The M(Q1,Q3)of total cortisol level(nmol/L)and body mass index(kg/m^(2))of male 21-OHD patients with dyslipidemia were 0.17(0.06,0.35)and 25.76(17.01,30.45),respectively,which were higher than those with ortholiposis[0.04(0.02,0.21)and 18.83(16.53,23.88)](all P<0.05).The M(Q1,Q3)of progesterone level(nmol/L),body mass index(kg/m^(2))and age(years)of female 21-OHD patients with dyslipidemia were 74.40(50.97,98.52),23.09(21.78,27.78)and 23.00(16.50,28.00),respectively,which were higher than those with ortholiposis[52.81(33.41,68.85),21.55(18.63,25.71)and 18.00(9.50,25.00)](all P<0.05).The risk of dyslipidemia increased by 5.0%[OR(95%CI):1.05(1.01,1.09)]for every 1 nmol/L increase of progesterone.Conclusion The incidence of dyslipidemia is high in 21-OHD patients,and progesterone level is positively correlated with dyslipidemia.

关 键 词：脂代谢障碍 21-羟化酶缺陷症 糖皮质激素类 基因型 横断面研究 

分 类 号：R589.2[医药卫生—内分泌] R596.1[医药卫生—内科学]