常染色体隐性遗传性多囊肾儿童期发病的临床分析

目的 分析常染色体隐性遗传性多囊肾（ARPKD）儿童期发病临床特点。方法 回顾性分析8年间7例ARP、KD患儿的临床特点，腹部CT、B超等影响学检查结果并结合相关文献进行总结。结果 ARPKD儿童期发病以肝脾大为主要表现，肝功能基本正常，肾脏受累不明显，肝脏病变与肾脏病变呈相反趋势。结论 由先天性肝纤维化所致肝脾肿大及门脉高压是ARPKD儿童期发病患儿的主要临床表现及死亡原因。

Analysis of autosomal recessive polycystic kidney disease in childhood

Objective To analyze the clinical characteristics and the manifestations of autosomal recessive polycystic kidney disease (ARPKD) in childhood Methods To summarize the clinical characteristics and imagine examines of seven cases of ARPKD with relative literitures Results The main manifestation of ARPKD in childhood is hepatosplenomegaly,but liver function is usually normal and the kidney is not usually involved The relative degrees of kidney and liver involvement tend to be inverse Conclusions With prolonged survival,hepatosplenomegaly and portal hypertension due to congenital hepatic fibrosis become the main clinical presentation and cause of death in ARPKD in childhood