摘要 : Superficially, autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) seem to be more different than alike. ADPKD is common, its cysts arise from any nephron segment, and it ... 展开 Superficially, autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD) seem to be more different than alike. ADPKD is common, its cysts arise from any nephron segment, and it is slowly progressive. Hepatic cysts are its primary extrarenal lesion. The disease results from mutation of either of two genes, PKD1 and PKD2, that encode distinct proteins (PC1 and PC2) that form a receptor-channel complex. In sharp contrast, ARPKD is 20-fold less common, presents primarily in infancy and childhood, and is typically more severe. Affected newborns are often born with massively enlarged, cystic kidneys and die in the perinatal period from respiratory failure. Unlike in ADPKD, these cystic kidneys retain their reniform shape and the cysts are fusiform dilations mainly of the collecting ducts. A variety of liver abnormalities that result from ductal plate malformations are universally present. The disease results from mutation of PKHD1, a novel gene that encodes a cell-surface receptor or ligand. 收起