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Correspondence
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Volume 359:318-319 July 17, 2008 Number 3
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Perinatal Deaths in a Family with Autosomal Dominant Polycystic Kidney Disease and a PKD2 Mutation

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To the Editor: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common mendelian disorders, affecting approximately 12.5 million persons worldwide.1,2 Clinical symptoms usually do not arise until adulthood. ADPKD2 is generally considerably milder than ADPKD1. About 2 to 5% of patients have early-onset ADPKD, which at times is clinically indistinguishable from autosomal recessive polycystic kidney disease (ARPKD).3 To date, ADPKD with early manifestations has been thought to be strictly confined to persons with ADPKD1.2

We now report on a four-generation family carrying a mutation in the gene for ADPKD2 (PKD2) with previously undetected disease. In . . . [Full Text of this Article]



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