Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families.
Mohamed H Al-HamedNada AlsahanSarah J RiceNoel EdwardsEman NooreddeenMaha AlotaibiWesam KurdiMaha AlnemerNaderah AltalebWafa AliNouf Al-NumairNajd AlmejaishJohn A SayerFaiqa ImtiazPublished in: Pediatric nephrology (Berlin, Germany) (2019)
Our findings confirm that PKD1 alleles may combine to produce severe paediatric onset PKD mimicking the more severe autosomal recessive ciliopathy syndromes associated with PKD. Screening of parents of such children may also reveal subclinical PKD phenotypes.