一个成人多囊肾疾病家系研究分析  

A family history analysis of polycystic kidney disease with autosomal dominant inheritance

作　　者：吕龙[1] 王萍[1] 周晓庆[1] 邵艳秋[1] 

机构地区：[1]江苏省南京市高淳县人民医院外科,211300

出　　处：《中国优生与遗传杂志》2009年第4期109-110,100,共3页Chinese Journal of Birth Health & Heredity

摘　　要：目的通过一个家系分析,探讨常染色体显性遗传性多囊肾疾病的病因学、病理学、遗传学因素。方法通过对一个多囊肾家系三代20例家庭成员进行调查,并对六例患者进行B超、肝肾功能检查。结果患者主要表现为双侧肾脏多发性囊肿,部分患者合并肝脏多发性囊肿,多于35岁以后起病,伴有腹胀,高血压,血尿等症状,部分患者行囊肿去顶开窗手术,有一例患者合并多囊脾。家系遗传分析表明该疾病属于常染色体显性遗传性多囊肾疾病,其中多囊肝为肾外表现。结论本病发病机制与基因缺陷相关,尤其是PKD1、多囊蛋白-1、PKD2、多囊蛋白-2、PKD3等,家系中如果亲代发病,子代中亦会有发病,年龄在35岁以后为多。Objective： To investigate the etiology, pathology and genetic factors of an autosomal dominant inheritary disorder polycystic kidney. Methods ： All individuals were delected by examinations of medical, ultrasonic , discovered that there were 6 patients in the pedigrees which included 4 degrees and 24 individuals, all occurred after 35 years old, primary symptom was unilateral polycystic kidney, also with bellyache, hematuria, hypertension, etc. Some patients were operated, one patient with polycystic spleen. Results： Pedigree analysis indicated that this pedigrees was an autosomal dominant inheritary disorder polycystic kidney. Conclusion： Gene abnormality was an important factor for the disease, especial PKD1, PC - 1, PKD2, PC - 2, PKD3 etc.

关 键 词：多囊肾 常染色体显性遗传 家系分析 

分 类 号：R692.12[医药卫生—泌尿科学]