PKHD1

Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly

M. M. Nabhan, Abdelaziz, H., Xu, Y., R. Sayed, E., Santibanez-Koref, M., Soliman, N. A., and Sayer, J. A., Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly, vol. 14. pp. 3618-3624, 2015.

Autosomal recessive polycystic kidney disease (ARPKD) is an inherited ciliopathy leading to progressive kidney and liver disease. Biallelic mutations in the PKHD1 gene underlie this condition. We describe a child with bilaterally enlarged cystic kidneys, portal hypertension, and cerebral ventriculomegaly. Molecular genetic investigations using whole-exome sequencing and confirmation using Sanger sequencing revealed a homozygous pathogenic mutation in PKHD1 underlying the clinical phenotype of ARPKD.

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