重型β-地中海贫血患者青春发育状况及影响因素  

Cross-sectional Survey and Influencing Factors for Pubertal Development in Patients with Beta Thalassemia Major

作　　者：江转南 张丽娜[1] 孟哲[1] 欧辉[1] 侯乐乐[1] 刘祖霖[1] 黄思琪 梁立阳[1] JIANG Zhuan-nan;ZHANG Li-na;MENG Zhe;OU Hui;HOU Le-le;LIU Zu-lin;HUANG Si-qi;LIANG Li-yang(Department of Pediatrics,Sun Yat-sen Memorial Hospital,Sun Yat-sen University,Guangzhou 510120,China;Department of Child Healthcare,Maternal and Child Health Hospital of Dongguan,Dongguan 523000,China)

机构地区：[1]中山大学孙逸仙纪念医院儿科,广东广州510120 [2]东莞市妇幼保健院儿童保健科,广东东莞523000

出　　处：《中山大学学报（医学科学版）》2020年第6期967-974,共8页Journal of Sun Yat-Sen University:Medical Sciences

基　　金：中山大学孙逸仙纪念医院逸仙培育项目(SYS-C-201703);金磊儿科内分泌中青年区医师成长科研基金(7670019024)。

摘　　要：【目的】分析中山大学孙逸仙纪念医院的重型β-地中海贫血(β-TM)患者青春发育特点及影响因素。【方法】通过对42例年龄≥10岁β-TM患者进行随访资料回顾、问卷调查、体格检查及实验室检查等评估青春发育状态,分析影响β-TM患者青春发育的可能因素。【结果】24例(57.14%)β-TM患者出现青春发育异常,女性以乳房不发育、原发性闭经及男性以睾丸不增大、阴茎短小为主要表现。其中β0β0基因型、脾切除后、维生素D缺乏或者伴有糖尿病的β-TM患者的青春发育异常发生率均显著增高,差异有统计学意义(χ^2=3.966,5.196,5.567,4.714,P=0.046,0.023,0.018,0.030)。经Logistic回归分析得出心MRT2*<20 ms是β-TM患者青春发育异常的独立危险因素。【结论】β-TM患者青春发育异常较常见,起始祛铁年龄大、严重心铁过载、β0β0基因型、脾切除后以及合并其他内分泌疾病的β-TM患者青春发育异常发生率更高,低促性腺激素性腺功能减退症可能是青春发育异常的主要发病机制。【Objective】The purpose of this study was to investigate puberty development inβ-TM patients and to analyze its clinical characteristics and influencing factors.【Methods】A total of 42β-TM patients aged≥10 years old were evaluated for their stages of puberty development by reviewing follow-up data(using the REDCAP system,the thalassemia follow-up database),questionnaire,physical examination and laboratory tests.To investigate The correlations between multiple factors,such as age,beginning age of iron chelation,iron overload and so on,and abnormal puberty development inβ-TM patients,were investigated.【Results】Twenty-four cases ofβ-TM patients were diagnosed as abnormal puberty development,including 11 girls and 13 boys.The common clinical manifestations ofβ-TM patients with abnormal puberty development were delayed puberty development and primary amenorrhea for girls and short penis and small testicles for boys.The prevalence rate of abnormal puberty development was significantly higher inβ-TM patients who had older beginning age of iron chelation,β0β0 genotype,a history of splenectomy,vitamin D deficiency and diabetes(χ^2=3.966,5.196,5.567,4.714,P=0.046,0.023,0.018,0.030).The result of logistic regression analysis indicated that cardiac MRT2*<20 ms was an independent risk factor for abnormal puberty development inβ-TM patients.【Conclusions】Abnormal puberty development inβ-TM patients is very common.Influencing factors include beginning age of iron chelation,β0β0 genotype,vitamin D deficiency,diabetes and cardiac iron deposition.Moreover,hypogonadotropic hypogonadism may be an important pathogenesis of abnormal puberty development inβ-TM patients.

关 键 词：重型Β-地中海贫血 青春发育异常 铁过载 

分 类 号：R725.8[医药卫生—儿科]