A review of: Ward C, Hogan M, Rossetti S, et al. 2002 The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein. Nat Genet 30:259–269; and Onuchic L, Furu L, Nagasawa Y, et al. 2002 PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple IPT domains and PbH1 repeats. Am J Hum Genet 70:1305–1317

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 to poor urine output. Approximately 30% of the affected neonates die shortly after birth as a result of severe pulmonary hypoplasia and secondary respiratory insufficiency. Those who survive the perinatal period express widely variable disease phenotypes with systemic hypertension, renal insufficiency, and portal hypertension due to portal tract fibrosis as the most common clinical features (1).

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