目的探讨小儿常染色体隐性遗传多囊肾病(autosomal recessive polycystic kidney disease,ARPKD)的临床特点。方法回顾我院1995年1月～2006年12月收治的16例小儿ARPKD的临床资料。结果16例ARPKD中,男11例,女5例,影像学诊断14例,病理学诊断2例,肾脏影像学显示囊肿广泛分布于皮质和髓质。起病时以泌尿系症状就诊仅7例(43.75%),以肾脏外症状就诊3例(18.75%),其他就诊原因包括早产1例,出生时重度窒息1例,血尿素氮-肌酐(Bun-Cr)升高2例,贫血1例,外伤后肾囊肿破裂性腹痛1例。确诊时有12例(75%)肾衰竭,8例(50%)生长迟缓,10例(62.5%)合并肾脏外病变。随诊8例,4例死亡(分别死于先天性肺发育不良、重度窒息后多器官功能衰竭、进行性肾衰竭以及终末期肾病合并胆管细胞癌肾脏转移),1例透析,1例肾移植,1例肾功能正常,1例肝硬化。结论ARPKD为先天遗传性、进行性的肾脏和肝脏损害,小儿期临床表现形式多样,产前诊断对减少ARPKD畸形儿的出生有重要意义。 Objective To investigate the clinical features of pediatric autosomal recessive polycystic kidney disease (ARPKD). Methods The clinical data of 16 pediatric ARPKD patients admitted to our hospital from January 1995 to December 2006 were retrospectively reviewed. Results Among 16 ARPKD patients, 11 were male and 5 were female, 14 were diagnosed by imaging diagnosis, 2 were diagnosed by pathology. Renal imaging showed that cysts were widely distributed in cortex and medulla. Only 7 cases (43.75%) were diagnosed urological symptoms at onset, 3 cases (18.75%) were treated with extra-renal symptoms, 1 case was premature birth, 1 case was severe asphyxia at birth, and blood urea nitrogen creatinine -Cr) increased in 2 cases, 1 case of anemia, renal cyst rupture after traumatic abdominal pain in 1 case. Renal failure was diagnosed in 12 patients (75%), slow growth in 8 patients (50%), and extrahepatic lesions in 10 patients (62.5%). Eight patients were followed up, and four died (one died of congenital lung dysplasia, multiple organ failure after severe asphyxia, progressive renal failure, and end-stage renal disease with cholangiocarcinoma and renal metastasis), one case of dialysis and one case of renal transplantation , 1 case of normal renal function, 1 case of cirrhosis. Conclusions ARPKD is an inherited and progressive renal and hepatic injury. Clinical manifestations are diverse in infancy. Prenatal diagnosis is of great importance in reducing the birth of ARPKD malformed children.