Expert Reviews in Molecular Medicine: http://www.expertreviews.org/
DOI: 10.1017/S1462399406010362; 17 January 2006
Bradley K. Yoder, Sharon Mulroy, Hannah Eustace, Catherine Boucher and Richard Sandford (2006) Molecular pathogenesis of autosomal dominant polycystic kidney disease.
Expert Rev. Mol. Med. Vol. 8, Issue 2, DOI: 10.1017/S1462399406010362

Molecular pathogenesis of autosomal dominant polycystic kidney disease

Bradley K. Yoder, Sharon Mulroy, Hannah Eustace, Catherine Boucher and Richard Sandford

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Autosomal dominant polycystic kidney disease (ADPKD) is one of the commonest inherited human disorders yet remains relatively unknown to the wider medical, scientific and public audience. ADPKD is characterised by the development of bilateral enlarged kidneys containing multiple fluid-filled cysts and is a leading cause of end-stage renal failure (ESRF). ADPKD is caused by mutations in two genes: PKD1 and PKD2. The protein products of the PKD genes, polycystin-1 and polycystin-2, form a calcium-regulated, calcium-permeable ion channel. The polycystin complex is implicated in regulation of the cell cycle via multiple signal transduction pathways as well as the mechanosensory function of the renal primary cilium, an enigmatic cellular organelle whose role in normal physiology is still poorly understood. Defects in cilial function are now documented in several other human diseases including autosomal recessive polycystic kidney disease, nephronophthisis, Bardet–Biedl syndrome and many animal models of polycystic kidney disease. Therapeutic trials in these animal models of polycystic kidney disease have identified several promising drugs that ameliorate disease severity. However, elucidation of the function of the polycystins and the primary cilium will have a major impact on our understanding of renal cystic diseases and will create exciting new opportunities for the design of disease-specific therapies.

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Figure 1. Gross pathology of autosomal dominant polycystic kidney disease (ADPKD).
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Figure 2. The two-hit hypothesis of renal cyst formation.
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Figure 3. The domain architecture of polycystin-1 and -2.
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Figure 4. Pkd1 expression in the mouse embryo.
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Figure 5. Polycystin-1 and polycystin-2 expression in the adult kidney.
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Figure 6. The primary cilium.
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Table 1. Human polycystic kidney diseases.
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Table 2. Features of autosomal dominant polycystic kidney disease (ADPKD).
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Movie 1. Optical projection tomography showing Pkd1 expression in the mouse embryo.
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