超声诊断常染色体隐性遗传性多囊肾疾病伴先天性肝纤维化

Ultrasound in diagnosis of autosomal recessive polycystic kidney disease complicated with congenital hepatic fibrosis

目的评价超声诊断常染色体隐性遗传性多囊肾疾病(ARPKD)伴先天性肝纤维化(CHF)的价值。方法回顾分析7例临床诊断为ARPKD伴CHF患儿的临床和超声资料。结果 7例超声均表现为肾脏体积明显增大,实质回声不均,呈弥漫点状回声增强,皮、髓质分界不清,浅表高频线阵超声可见多量微小囊泡,部分或全部皮、髓质受累;6例肝脏增大,肝内胆管轻度扩张并僵直,门静脉周围回声增强,1例于肝右后叶可见胆管呈囊状扩张。结论超声诊断ARPKD伴CHF具有重要意义;浅表高频线阵超声有助于明确显示其肾脏特征性改变。

Objective To observe the value of ultrasound in diagnosis of autosomal recessive polycystic kidney disease （ARPKD）complicated with congenital hepatic fibrosis （CHF）. Methods The clinical and ultrasonic data of 7 patients with ARPKD were retrospectively analyzed. Results The kidneys of 7 cases manifested as increased volume, inhomogeneous echo of renal parenchyma with diffuse spot hyperecho and loss of the normal corticomedullary distinction. Using high frequency ultrasound, numerous microcysts were observed, and part or all the cortex and medulla were involved. The livers enlarged in 6 cases, and mild dilated and stiff intrahepatic bile duct and enhanced periportal echo were observed. Cystic dilation of bile duct was found in 1 case at right posterior lobe of the liver. Conclusion Ultrasound plays an important role in diagnosis of ARPKD complicated with CHF. High frequency ultrasound is helpful to displaying the characteristic changes of kidney in patients with ARPKD.