(1999) Comparison of phenotypes of polycystic kidney disease types 1 and 2. Lancet 353: 103-107.Hateboer N, v Dijk MA, Bogdanova N, et al. Comparison of phenotypes of polycystic kidney disease types 1 and 2. Lancet 1999;353:103-107....
多囊肾,标准叫法为多囊肾病(polycystic kidney disease,PKD)是一种遗传性的慢性肾脏疾病,主要表现为双侧(偶有单侧)肾内大小不一的囊肿,囊内充满液体,最终导致肾脏增大、变形。 多囊肾病可使患者肾功能降低,导致肾功能衰竭,还可伴发肝囊肿、高血压、心脑血管病等肾外病变。目前尚无治愈该病的特效药物。可以通过囊内...
常染色体显性遗传多囊肾(autosomal dominant poly cystic kidney disease,ADPKD),过去称为成年型多囊性肾脏病。常染色体隐性遗传多囊肾(autosomal recessive polycystic kidney disease,ARPKD)又称婴儿型或儿童型多囊肾,是一种罕见病。 病因和发病机制 90%ADPKD患者的异常基因位于16号染色体的短臂,称为ADPKD1基因,基因产物...
Polycystic kidney disease (PKD)多囊肾是一个常染色体显性遗传病,父母一方有该病,孩子患病几率50%。目前没有任何有效的治疗方法,正常的肾组织被一个个小囊肿替代,直至肾衰竭。部分患者肝也可以同时患病。最后只有肾移植才能恢复人体正常的泌尿功能。看看这个已经肾衰的病人切下来的多囊肾,一个个囊肿,一包包水。 L蓝...
多囊肾病(Polycystic kidney disease)是指在肾脏出现单个或多个内含液体的良性囊肿性肾脏疾病。自B超和CT应用以来,囊性肾病称为临床上常见的一种肾脏疾病。以单纯性肾囊肿最常见,其次为多囊肾,后者病变广泛可导致肾功能受损。在佳学基因的《人的基因序列变化与人体疾病表征》数据库里,大多数多囊肾病的病例是常染色体...
1、普通X线检查:可见肾脏增大而不规则,但这种变化并非PKD所持有。 肾肿大,边缘不规则,见于患多囊性肾病猫的X线检查。偶尔在肾脏可见到结石。 2、排泄性尿路造影术:可见囊肿为肾脏实质内多个可投过射线的区域。 3、基因检测:口腔采样判断是否携带多囊肾基因。基但因检测存在局限。猫的多囊肾大多数是"AD-PKD",即...
Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Lancet. 1999;353(9147):103–7. Article CAS PubMed Google Scholar Hateboer N, Veldhuisen B, Peters D, Breuning MH, San-Millan JL, Bogdanova N, et al. Location of mutations within the ...
Comparison of phenotypes of polycystic kidney disease types 1 and 2. European PKD1-PKD2 Study Group. Although autosomal dominant polycystic kidney disease type 2 (PKD2) is known to have a milder clinical phenotype than PKD1, neither disorder has been compa... N Hateboer,MAV Dijk,N Bogdanova,....
Common regulatory elements in the polycystic kidney disease 1 and 2 promoter regions Eur. J. Hum. Genet., 13 (2005), pp. 649-659 CrossrefView in ScopusGoogle Scholar [27] R. Anish, M.B. Hossain, R.H. Jacobson, S. Takada Characterization of transcription from TATA-less promoters: ident...