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成人显性遗传性多囊肾(ADPKD)被认知已有几个世纪,但该病发病机理及预防的研究在很长时间内几乎没有进展。晚近已证实ADPKD是通过常染色体显性遗传进行复制的,该基因位于第16号染色体的短臂上,在总人群中出现的频率为1:1000。大部分ADPKD患者的首发症状是高血压,其出现早于其它并发症如季肋区痛、血尿及肾结石等。调查显示血肌酐正常的ADPKD患者中有30％出现高血压,出现肾功能不全时有81％出现高血压,当出现尿毒症时则有92％患者并发高血压。出现高血压可能系血容量增加所致,这些患者血容量和心脏指数升高,但外周阻力却没有相应下降。患者可出现多种相关的脏器损害。有报道患者多合并先天性畸形,但对此尚未肯定,因为先天性畸形在ADPKD家族和无此病的家族中发病率一致。40％无
Adult dominant hereditary polycystic kidney disease (ADPKD) has been recognized for centuries, but the pathogenesis and prevention of the disease have shown little progress for a long time. It has recently been demonstrated that ADPKD is replicated by autosomal dominant inheritance, which is located on the short arm of chromosome 16 and occurs at a frequency of 1: 1000 in the general population. The first symptom of most ADPKD patients is high blood pressure, which occurs earlier than other complications such as quarter rib pain, hematuria and kidney stones. The survey showed that 30% of ADPKD patients with normal serum creatinine developed hypertension, 81% developed hypertension when renal insufficiency occurred, and 92% developed hypertension when uremia was present. Hypertension may be due to increased blood volume, these patients blood volume and cardiac index increased, but no corresponding decline in peripheral resistance. Patients may have a variety of related organ damage. It has been reported in patients with multiple congenital malformations, but this has not been affirmed, because the congenital malformations in the ADPKD family and no such disease in the same family incidence. 40% none