Xuan Shang

PKHD1 biallelic defects caused Severe Hepatic Fibrosis and polycystic kidney: Identification of a novel pathogenic variant in a Chinese family.

Background Autosomal recessive polycystic kidney disease (ARPKD) is a rare hereditary ciliopathy, clinically characterized by fibrocystic changes in the kidneys and liver. The disease is manifested by hepatic fibrosis and significantly enlarged, echogenic kidneys with fusiform dilation of the collecting ducts. ARPKD is...