常染色体显性多囊肾病的临床表现及其诊治进展

Clinical Manifestations, Diagnosis and Treatment Progress of Autosomal Dominant Polycystic Kidney Disease

常染色体显性遗传多囊肾病(ADPKD)是最常见的遗传性肾病之一,是终末期肾病(ESRD)的一大病因。其发病主要是由于PKD基因突变引起的。常见临床表现为肾功异常、高血压、囊肿感染、出血、尿路感染、疼痛等。多囊肾病的临床表现不一,确诊后需要进一步筛查有无囊肿形成、体积增大引起的症状及其他系统性表现,以便更好地治疗疾病和提高生存质量。很多人认为ADPKD只是单纯地局限于肾脏表现,其实ADPKD是一种可累及泌尿、消化、神经、生殖等多个系统的系统性疾病。本文将对ADPKD的典型临床表现及其诊治做一个综述,以期能够为其早期诊断、全面治疗、减少并发症提供参考。

As one of the most common hereditary nephropathies, autosomal dominant polycystic kidney disease (ADPKD) is a major pathogeny for end-stage renal disease (ESRD). ADPKD is mainly caused by polycystic kidney disease (PKD) mutation. Common clinical manifestations may include abnormal renal function, hypertension, cyst infection, hemorrhage, urinary tract infection, pain, etc. As ADPKD clinical manifestations vary greatly, it is necessary to further detect if there are symptoms caused by the formation or volume increase of cyst, or any other systematic manifesta-tions, in order to better control the disease and improve life quality of the patient. Many people believe that ADPKD merely has renal manifestations, but it actually is a systemic disease that can impact multiple systems including urinary system, digestive system, nervous system, and repro-ductive system. This paper reviews the typical clinical manifestations and corresponding diagno-sis/treatment of ADPKD, with the goal of providing reference for early diagnosis, comprehensive treatment, and complication alleviation.