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单词 Autosomal dominant polycystic kidney disease
释义

Autosomal dominant polycystic kidney disease

中文百科

常染色体显性多囊肾

细胞膜上PKD1和PKD2蛋白的示意图
常染色体显性多囊肾成年患者的腹部CT扫描图。患者两肾都可以看到大量的囊肿,肝脏也可以见到少量囊肿。
成人多囊肾

常染色体显性多囊肾Autosomal dominant polycystic kidney disease,ADPKD)又称为成人型多囊肾,是一种遗传性全身性疾病,主要影响肾脏,但也可能会影响其他器官,如肝脏、胰腺、脑动脉血管等。患有这种疾病的人大约有一半将会发展为终末期肾脏疾病,需要进行透析或肾移植。患者进展为终末期肾病通常发生在40-60岁之间。常染色体显性多囊肾病在全球范围都有发生,发病率大约为1/400人-1/1000人。

现在认为,常染色体显性多囊肾和两个基因缺陷有关。85%的患者是由位于16号染色体的基因PKD1(TRPP1)发生突变所致,15%的患者是由PKD2(TRPP2)突变所致。

英语百科

Autosomal dominant polycystic kidney disease 常染色体显性多囊肾

Illustration of PKD1 and PKD2 proteins at the cell membrane.
Abdominal CT scan of an adult with autosomal dominant polycystic kidney disease. Extensive cyst formation is seen over both kidneys, with a few cysts in the liver as well. Coronal plane.

Autosomal dominant polycystic kidney disease (ADPKD, autosomal dominant PKD or adult-onset PKD) is the most prevalent, potentially lethal, monogenic human disorder. It is associated with large interfamilial and intrafamilial variability, which can be explained to a large extent by its genetic heterogeneity and modifier genes. It is also the most common of the inherited cystic kidney diseases — a group of disorders with related but distinct pathogenesis, characterized by the development of renal cysts and various extrarenal manifestations, which in case of ADPKD include cysts in other organs, such as the liver, seminal vesicles, pancreas, and arachnoid membrane, as well as other abnormalities, such as intracranial aneurysms and dolichoectasias, aortic root dilatation and aneurysms, mitral valve prolapse, and abdominal wall hernias. Over 50% of patients with ADPKD eventually develop end stage kidney disease and require dialysis or kidney transplantation. ADPKD is estimated to affect at least 1 in every 1000 individuals worldwide, making this disease the most common inherited kidney disorder with a diagnosed prevalence of 1:2000 and incidence of 1:3000-1:8000 in a global scale.

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更新时间:2025/6/20 23:10:27