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。方法通过对一多囊肾疾病家系4代34例家庭成员进行了调查,并对7例患者进行体检、超声、外周血染色体等检查。结果患者主要表现为单侧肾脏囊肿性疾病,40岁以后发病,伴有腹胀、腹痛、高血压、血尿等症状。家系遗传分析表明,该家系疾病属于常染色体显性遗传性多囊肾疾病。结论基因缺陷为本病的重要发病机制之一,本家系中如果任一亲代发病,子代中必有子女发病,并且从Ⅱ1所生3女1子全部发病,发病年龄均在40岁以后,其第4代有很高的发病风险。
Objective To investigate the etiology, pathology and genetic factors of an autosomal dominant hereditary disorder polycystic kidney. Methods all individuals were detected by examinations of medical, ultrasonic and chromosome, discovered that there were 7 patients in the pedigrees which included 4 degrees and 34 individuals, all occurred after 40 years old, primary symptom was unilateral polycystic kidney, also with bellyache, hypertension and hematuria, etc. Results pedigree analysis indicated that this pedegrees was an autosomal dominant disorder hereditary polycystic kidney. Conclusion gene abnormality was an important factor for the disease, if either parent in the pedigrees was patient, their children must be put into trouble. Because the case of Ⅱ 1 had 4 children that were all patients, the fourth degree might have a high disease risk.
出处
《中国生育健康杂志》
2007年第6期353-356,共4页
Chinese Journal of Reproductive Health
关键词
多囊肾
常染色体显性遗传
家系分析
Polycystic kidney
Autosomal dominant heredity
Pedigree analysis
