儿童肾脏囊性疾病

Cystic kidney disease in children

世界范围内慢性肾脏病的发病率和患病率均在飞速上升,给患者和社会带来了沉重的经济和精神负担。研究显示,肾脏囊性疾病是导致20岁前接受肾脏替代治疗的三大罕见病之一。该病是一组因不同原因导致肾脏出现单个或多个囊肿的疾病,分为与发育有关的肾脏囊性疾病、遗传性肾脏囊性疾病及获得性肾脏囊性疾病3类,其中儿童罕见获得性肾脏囊性疾病。该病可于胎儿期、婴儿期、儿童期甚至成年发病,起病隐匿,且临床表现异质性大,可为孤立性的肾脏受累或有肾外症状,肾脏影像学检查显示肾脏大小正常、增大或缩小,囊肿可累及单侧或双侧肾脏。收集临床一手资料时不要漏掉家族史的调查。基因检测能够确诊遗传性肾脏囊性疾病。针对此类疾病的治疗主要是对症治疗,发展至终末期肾病者需要肾脏替代治疗。

Both the incidence and prevalence of chronic kidney disease are rising rapidly all over the world, which brings heavy economic and mental burden to the patients and the society.A retrospective study of the European Renal Association-European Dialysis and Transplant Association(ERA-EDTA) Registry showed cystic kidney disease was one of the three most prevalent rare diseases leading to renal replacement therapy before the age of 20 years.Renal cystic disease encompasses a variety of diseases that cause single or multiple cysts in the kidneys, and can be divided into 3 categories: cystic kidney disease due to fetal renal malformations, hereditary cystic kidney diseases and acquired cystic kidney diseases.Acquired renal cysts rarely occur in the general pediatric population.Renal cystic disease can present during fetus, infancy, childhood or adulthood.The onset of the disease is occult, and the clinical manifestations are heterogeneous.The manifestations may be confined to the kidney or as part of a syndrome.On renal imaging, the kidney size is normal, enlarged or small, and cysts can involve unilateral or bilateral kidneys.Family history investigation should be performed when collecting first-hand clinical data.Genetic testing can confirm the diagnosis of hereditary renal cystic disease.Cystic kidney disease is currently treated symptomatically, and patients with end-stage renal disease require renal replacement therapy.