云南2型糖尿病家系人群中糖尿病视网膜病变的患病情况分析

Prevalence of Diabetic Retinopathy in Type 2 Diabetes Mellitus Families in Yunnan Province

目的了解昆明地区2型糖尿病家系人群中糖尿病视网膜病变(DR)的患病情况以及家族遗传方式.方法以昆明医科大学第一附属医院糖尿病科2010年1月至2011年1月门诊或住院的昆明地区有糖尿病家族史的T2DM患者为先证者,汉族,收集T2DM家系共19个,具有血缘关系的家系成员共147例.采用调查问卷形式,回顾性询问家系中3代成员糖尿病、高血压及其他特殊疾病的患病情况,并记录所有研究对象的一般临床资料,包括年龄、性别、糖尿病史及其家族史、吸烟史和高血压病史等.结果 (1)19个T2DM家系147例家系人群中,DR的患病率为22.45%,其中新诊断T2DM伴DR者2例(2/147);(2)先证者中、一级亲属中、二级亲属中DR患病率分别为57.89%、22.11%、3.03%;(3)女性DR的患病率(17.69%)高于男性(4.76%).先证者母亲DR的患病率高(83.33%),同胞中兄弟和姐妹DR的患病率之间无统计学意义(P>0.05);(4)NGT、IGR和T2DM组年龄分别为(33.13±18.15)岁、(54.43±11.35)岁和(56.15±11.98)岁;年龄在IGR组和NGT组、T2DM组和NGT组之间均具有明显统计学意义(P<0.01);(5)先证者、一级亲属和二级亲属年龄分别为(52.58±10.27)岁、(47.65±17.17)岁和(21.94±14.32)岁;年龄在先证者组和二级亲属组、一级和二级亲属组之间具有统计学意义(P<0.05).先证者伴DR组和先证者的同胞伴DR组的患病年龄分别为(58.09±7.71)岁、(56.09±3.99)岁;年龄在2组人群中无统计学意义(P>0.05);(6)DR人群中年龄≥50岁达90%以上,尤50～70岁居多.先证者伴DR者的年龄<50岁有1名,50～60岁有5名,61～70岁有5名;先证者T2DM同胞伴DR者的年龄50～60岁有9名,61～70岁有2名;两组比较无统计学意义(P>0.05);(7)DR人群中糖尿病病程5～10a者达50%.先证者伴DR者糖尿病病程<5a者5名,5～10年者6名;先证者T2DM同胞伴DR者糖尿病病程<5a者7名,5～10a者4名;两组人群糖尿病病程构成无统计学意义(P=0.392,P>0.05).(8)家系中≥2名DR者的家系占47.4%,先证者母亲为DR的家系有10个.结论 (1)T2DM家系人群中DR的患病率为22.45%,新诊断T2DM伴DR者的患病率为1.36%;(2)女性DR的患病率高于男性,且先证者母亲DR的患病率高,同胞中DR的患病率无性别差异;(3)T2DM家系人群中血缘级别越低DR的患病率越低,且先证者同胞DR的患病年龄提前;(4)DR人群以老年人居多,其糖尿病病程至少≥5a.(5)DR的发病可能具有家族聚集性,母系遗传可能是本家系研究人群的重要特征.

Objective To detect the prevalence and the genetic pattern of DR in type 2 diabetes mellitus families in Kunming. Methods We selected T2DM outpatients or inpatients with family history of diabetes in Han nationality as probands from Diabetes Department in the First Affiliated Hospital of Kunming Medical University inKunming, from January 2010 to January 2011. We collected 19 T2DM families with a total of 147 different-pedigree family members. Then we retrospectively recorded the clinical data from all subjects with questionnaires, including the history of diabetes/hypertension and other special diseases, as well as age, sex, family history, smoking history and hypertension history. Results （1） In 19 families of 147 folks, two cases were of newly diagnosed T2DM with DR （2/147） and the prevalence of DR in the population was 22.45%. （2） The prevalence of DR in probands, first-degree relatives and second-degree relatives were 57.89%, 22.11% and 3.03%, respectively. （3） The prevalence of DR was higher in women （17.69%） than in men （4.76%）. The prevalence in mothers of probands with DR was very high （83.33%） , and there was no statistically significant difference in the prevalence of DR be- tween brothers and sisters in siblings （P 〉 0.05 ）. （4） The ages of subjects in NGT, IGR and T2DM group were （33.13 ± 18.15）, （54.43 ±11.35） and （56.15 ± 11.98） years old, respectively; there was statistieally signif- icant difference in ages between the IGR group and NC, T group, T2DM group and NGT group （P 〈 0.01） （5） The ages of probands, first-degree relatives and second-degree relatives were （52.58 ± 10.27） , （47.65 ± 17.17） and （21.94 ± 14.32） years old, respectively; there was statistically significant difference between probands and first-degree relatives, first-degree relatives and second-degree relatives （P 〈 0.05 ）. The ages of T2DM probands with DR and the T2DM siblings with DR were respectively （58.09 ± 7.71） and （56.09 ±3.99） years old; there was no statistically significant difference between two groups （P 〉 0.05 ）. （6） The subjects with Age I〉 50 years old accounted for for more than 90% of the DR population, especially the majority of 50 to 70 years old. （7） The patients with the duration of diabetes of 5 to 10 years accounted for 50% in DR population. There were 5 probands with DR with the duration of diabetes less than 5 years and 6 probands with DR with the duration of dia- betes of 5-10 years; There were 7 siblings with T2DM and DR of probands with the duration of diabetes less than 5 years and 4 with the duration of diabetes of 5-10 years ; there was no statistically significant difference in the dura- tion of diabetes between two groups （P = 0.392, P 〉 0.05 ）. （8） The number of families with 1〉 2 DR patients ac- counted for 47.4%. The number of families with mothers of DR as probands was 10. Conclusion （1） The preva- lence of newly diagnosed T2DM with DR is 1.36% and the prevalence of DR is 22.45%. （2） The prevalence of DR is higher in women than in men. The prevalence in mothers of probands with DR is high, and there is no statistically significant difference between brothers and sisters in siblings with DR. （3） The further the kinship of the population is, the lower prevalence of DR is. Compared to the T2DM probands with DR, the T2DM siblings with DR is in ad- vance. （4） The DR population are mostly the older crowd, the duration of diabetes of which are at least ≥ 5 years. （5） DR may happen in a familial aggregation way, and maternal inheritance is an important feature of the study population.