Autosomal Dominant PKD in Patients With PKD2 Mutations–A Benign Disorder?

Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic cause of kidney disease and the fourth most common reason for adults to require renal replacement therapy worldwide. Two gene mutations, PKD1 and PKD2, encode for polycystin proteins. These polycystins colocalize to the primary cilia and sense tubular fluid flow. Polycystin 2 functions as a calcium-permeable cation channel, and with TRPV4, forms mechanosensitive channels in cilium. Increased proliferation of cyst-lining epithelial cells and fluid secretion into cyst lumens are mediated by a series of downstream events resulting in increased intracellular cAMP, activation of mTOR, and CFTR.

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