• 作者：Marí ; a Pilar Dí ; az Ferná ; ndez ; ^{diaz_pilfer@gva.es} ; Vicente Sabater Marco ; Cristian Ortiz Villaló ; n ; Rosa Barbella Aponte ; Consuelo Calabuig Crespo
• 关键词：Poliquistosis renal autos&oacute ; mica recesiva ; Quistes renales ; Fibrosis hepá ; tica congé ; nita
• 刊名：Revista Espa帽ola de Patolog铆a
• 出版年：2010
• 期刊代码：pca318_16998855
• 类别：med
• 出版时间：January-March 2010
• 卷：43
• 期：1
• 页码：39-42
• 文件大小：403 K

Introduction

Autosomal recessive polycystic kidney disease (ARPKD) is a genetic disorder caused by a mutation in the PKD1 gene, which codes for protein polycystin 1, mapped on chromosome 6p13.3. ARPKD is characterised by the formation of cysts from coalescing dilated renal collecting ducts coexisting with congenital hepatic fibrosis secondary to biliar dysgenesis.

Case report

We report the autopsy findings in a 2 h old, term female infant with severe oligohydramnios. The pregnancy had not been monitored, although a previous ultrasonography revealed foetal kidney enlargement. The most significant macroscopic findings were sponge kidneys composed of multiple small cysts and focal hepatic fibrosis. Microscopically a diagnosis of autosomal recessive polycystic kidney disease with biliary dysgenesis was made.

Discussion

The clinical and pathological findings are correlated and the most important necropsy findings are described. The relevant literature is reviewed and recent advances in the pathology, genetics, diagnosis, ultrasonography, prevention and treatment of ARPKD are discussed.