常染色体显性遗传多囊肾病的研究进展

常染色体显性多囊肾病(autosomal dominant polycystic kidney disease，ADPKD)是一种常见的遗传性疾病，主 要由多囊肾病(polycystic kidney disease，PKD)1/PKD2基因突变引起，以双肾多发、进行性增大的囊肿为主要表现， 可同时伴有肾小球滤过功能减退、高血压、肝囊肿及脑动脉瘤，约45%的患者在60岁之前进展为终末期肾衰竭。 ADPKD基因测序可用于临床特征不典型、没有阳性家族史、影像学表现不明显的患者。在ADPKD阳性的家系中，影 像学检查是诊断ADPKD的主要手段。按身高调整后的肾总体积(height-adjusted total kidney volume，htTKV)和肾增长率 是目前常用的监测ADPKD进展和判断预后的指标。ADPKD暂无终止其疾病进展的有效治疗措施。ADPKD治疗药物 托伐普坦和伯舒替尼能延缓htTKV的增加，已在欧美等地区应用于临床。

Research progress in autosomal dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease (ADPKD) is a common hereditary disease, mainly caused by polycystic kidney disease 1/2 (PKD1/2) gene mutation. Th e main manifestation is the formation of multiple progressive enlarged cysts in both kidneys, which can be accompanied by decreased glomerular filtration rate, hypertension, liver cyst and cerebral aneurysm. About 45% of patients will progress to end-stage renal failure before the age of 60. ADPKD gene sequencing can be chosen for suspicious patients with atypical clinical features, no positive family history, and inconspicuous imaging fi ndings. In the ADPKD positive families, imaging examination is the main means of diagnosing ADPKD. Height-adjusted total kidney volume (htTKV) and kidney growth rate are commonly used to monitor ADPKD disease progression and prognosis. Th ere is no effective treatment for ADPKD to stop its progress. Drugs such as tolvaptan and bosutinib can delay the renal disfunction and they have been applied to clinical therapy in Europe and America.