• Article

Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts

Autosomal recessive polycystic kidney disease (ARPKD; MIM 263200) is an important childhood nephropathy, occurring in 1 in 20 000 live births.1 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 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.2


Sharp, AM., Messiaen, LM., Page, G., Antignac, C., Gubler, M-C., Onuchic, LF., ... Guay-Woodford, LM. (2005). Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts. Journal of Medical Genetics, 42(4), 336-349. https://doi.org/10.1136/jmg.2004.024489

DOI Links