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Ten-year clinical and ultrasonographic follow-up of siblings from families with autosomal dominant polycystic kidney disease.
Autosomal dominant polycystic kidney disease with anticipation and Caroli's disease associated with a PKD1 mutation.
Autosomal dominant polycystic kidney disease is among the most prevalent dominant human disorders, affecting between 1 and 1000 and 1 and 3000 individuals worldwide.
The data suggest the exciting possibility that targeting the activity of PKD1 may be beneficial for treatment of isolated polycystic liver disease, childhood recessive polycystic kidney disease and even a subset of adult ADPKD," Somlo said.
This TreatmentTrends([R] ): Polycystic Kidney Disease report focuses mainly on Autosomal dominant PKD (ADPKD) which is one of the most common life-threatening genetic diseases.
While we had previously shown that rapamycin is highly effective in mouse models of polycystic kidney disease, the problem had been that these mice had different genes affected than human patients.
Harris and the European Polycystic Kidney Disease Consortium had identified the gene, called PKD1, on the short arm of chromosome 16, 1 of the 23 pairs of human chromosomes.
In that role, he has directed the transformation of the organization from a small, regional effort into the leading voice for the millions of people affected by Polycystic Kidney Disease (PKD) worldwide.

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