儿童常染色体显性遗传性多囊肾病的早期识别及转归

摘要

Autosomal dominant polycystic kidney disease( ADPKD)is the most common hereditary renal disease,which has an incidence of 1 / 1 000 to 1 / 500 in live births,was characterized by renal enlargement along with renal tubular cystic dilatation,approximately half of affected individuals reach end stage renal disease(ESRD)by 60 years of age,accounting for 7% - 10% of patients with ESRD. ADPKD could be diagnosed in children and even in ute-ro,early identification and intervention in children would ameliorate the progression of ADPKD to ESRD. Therefore,it is imperative for pediatricians to recognize the early clinical manifestations and outcome of the disease. The aim of this re-view will focus on the early identification,management and outcome in childhood.%常染色体显性遗传性多囊肾病（ ADPKD）是发病率最高的遗传性肾病，其新生儿发病率为1/1000~1/500，其主要表现为伴随肾小管进行性囊性扩张的肾肿大。约一半的 ADPKD 患者在60岁进展至终末期肾病（ESRD），占 ESRD 总数的7%~10%。ADPKD 在儿童期，甚至最早在胎儿期即可被诊断，对儿童期发生的 ADPKD 进行早期识别干预，能改善 ADPKD 向 ESRD 转归的进程。因此，对于儿科医师认识本病的早期临床表现及转归显得尤为重要。现主要对儿童 ADPKD 早期识别、治疗及转归进行综述。