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A Journal on Internal Medicine

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Minerva Medica 2007 December;98(6):669-91

language: English

Update on autosomal dominant polycystic kidney disease

Torres V. E., Rossetti S., Harris P. C.

Mayo Clinic College of Medicine Rochester, MN, USA


Autosomal dominant polycystic kidney disease (ADPKD) is the most prevalent, potentially lethal monogenic disorder. Over the past two decades, its study has yielded remarkable progress. The mutated genes have been identified by positional cloning, the function of a novel class of conserved proteins encoded by these genes has been partially elucidated, and a neglected organelle, the primary cilium, has become the focus of investigation. The large inter- and intra-familial variability, explained to a large extent by genetic heterogeneity and modifier genes, is now better appreciated. Increased understanding of the progression of the disease and of its underlying genetic, molecular and cellular mechanisms have laid the foundations for the development of potentially effective therapies and clinical trials.

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