5例成人型多囊肾家系调查  

Pedigree investigation on 5 cases of adult polycystic kidney disease

作　　者：崔日南 崔永根[2] 朴松旭[2] 

机构地区：[1]延边朝鲜族民族医药研究所,吉林延吉133001 [2]延边大学医学院附属医院遗传优生研究室,133000

出　　处：《中国优生与遗传杂志》2003年第5期126-126,共1页Chinese Journal of Birth Health & Heredity

摘　　要：目的　了解 5例成人型多囊肾先证者家族中的患病情况及患病规律。方法　对 76例家族成员进行B型超声波检查 ,在肾脏中发现多个囊肿为主要诊断依据。结果　家族中患病率 4 3.6 % ,男 4 2 .8% ,女 4 4 .1% ,男女患病率无明显差异 ,符合常染色体显性遗传患病规律。结论　家系调查对开展遗传咨询、优生指导有重要意义。Objective: To investigate the law and the state of prevalence in family on 5 cases of proband of adult polycystic kidney disease. Methods: 76 family members received B-type ultrasonic examination, discovering polycystis in kidney as primary diagnostic basis. Result: Prevalence rate was 43.6%、male 42.8%、female 44.1% in family, there was no significant difference between maleand female, and the result accorded with the law of prevalence of autosomal dominant inheritance. Conclusion: Pedigree investigation has important significance on developing genetic consult and eugenic guide.

关 键 词：成人型多囊肾 先证者 常染色体显性遗传病 家系调查 

分 类 号：R692.12[医药卫生—泌尿科学]