Autosomal Recessive Polycystic Kidney Disease (ARPKD): New Insights from the Identification of the ARPKD Gene, PKHD1

Abstract

AUTOSOMAL RECESSIVE PKD (ARPKD) (MIM 263200) is an important childhood nephropathy, occurring 1 in 20,000 live births. The clinical phenotype is dominated by dilatation of the renal collecting ducts, biliary dysgenesis, and portal tract fibrosis. Affected children often present in utero with enlarged, echogenic kidneys, as well as oligohydramnios secondary… (More)
DOI: 10.1203/00006450-200212000-00002

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