常染色体显性遗传多囊肾一家系15例  

FIFTEEN CASES OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY IN A FIMILY TREE

作　　者：段晓星[1] 夏丽华[1] 张国光[1] 梦雅平[1] 

机构地区：[1]内蒙古医学院附属医院肾内科,内蒙古呼和浩特010050

出　　处：《内蒙古医学院学报》2008年第3期158-161,共4页Acta Academiae Medicinae Neimongol

基　　金：内蒙古自治区卫生厅(3类-61)

摘　　要：目的:了解常染色体显性遗传多囊肾的家族聚集性,探讨其患病情况、患病规律及治疗用药。方法:运用谱系图,报道常染色体显性遗传多囊肾(ADPK)一家系,共追溯五代。结果:家族中患病者男6人,女9人,符合常染色体显性遗传规律。家族中ADPK病人对高血压等并发症未能正确用药及系统治疗。结论:家系调查对开展遗传咨询、优生指导有重要意义。ADPK的早期诊断和早期系统治疗,可改善预后、提高病人生存质量,应提高患病人群对相关知识的掌握。Objective ：To explore the familial aggregation of autosomal dominant polycystic kidney （ADPK） and to investigate the situation, regularity and medication with this disease, nethods：A family system with ADPK,which was traced back to five generations, was reported according to the pedigree diagram. Results：Six men and nine women with ADPK were in accord with the law of inheritance of autosomal dominance. In the family, the patients with ADPK could not take the medicine correctly and treat systematically to the complication such as hypertension. Conclusion： Investigation of falmily system was of significance to genetic counseling and eugenic guidance. The earlier diagnosis and systemic treatment of ADPK were useful to improve prognosis and patient＇ s quality of living. Also, correlative knowledge in the patients with ADPK should be heightened and grasped.

关 键 词：多囊肾 遗传性疾病 谱系图 

分 类 号：R692.12[医药卫生—泌尿科学]