Genetic characterization of autosomal recessive polycystic kidney disease
Jim Casey
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Autosomal recessive polycystic kidney disease (ARPKD) is generally thought to be a disease of neonates, who typically present with large, echogenic kidneys. Most cases of typical ARPKD are caused by mutations in the recently discovered PKHD1 gene. Genetic analysis has enabled a more detailed characterization of the ARPKD population, including those with atypical disease who present with hepatic fibrosis as teenagers.
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