Neonatal onset autosomal dominant polycystic kidney disease (ADPKD) in a patient homozygous for a PKD2 missense mutation due to uniparental disomy.
- Losekoot, M.
- Ruivenkamp, C.A.
- Tholens, A.P.
- Grimbergen, J.E.
- Vijfhuizen, L.
- Vermeer, S.
- Dijkman, H.B.P.M.
- Cornelissen, E.A.M.
- Bongers, M.H.F.
- Peters, D.J.
DOIAbstract
Autosomal dominant polycystic kidney disease (ADPKD), due to a heterozygous mutation in PKD1 or PKD2, is usually an adult onset disease. Renal cystic disease is generally milder in PKD2 patients than in PKD1 patients. Recently, several PKD1 patients with a severe renal cystic phenotype due to a second modifying PKD1 allele, or carrying two incomplete penetrant PKD1 alleles, have been described. This study reports for the first time a patient with neonatal onset of PKD homozygous for an incomplete penetrant PKD2 missense variant due to uniparental disomy
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