The “ciliary hypothesis” refers to the idea that primary cilia–single, non-motile, microtubule-based structures which are found on the apical surface of renal tubular epithelial cells–play an integral role in the pathogenesis of polycystic kidney disease. Scientists have long…
There are several clinical trials regarding the slowing of progression of polycystic kidney disease currently being conducted; amongst the drugs being studied are V2 receptor antagonists. The rationale for this is that cyclic AMP (cAMP) is known to…
In order for renal cysts to grow in patients with polycystic kidney disease, it turns out this requires the pumping of chloride ion into the cyst lumen. This is carried out by the CFTR channel, the same chloride…
Although mutations in the gene HNF-1beta (or TCF2) were originally discovered in patients with mature-onset diabetes of the young (MODY), patients with these mutations more commonly present with a variable renal phenotype. Interestingly, a study by Egdhill et….
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is caused by the autosomal dominant transmission of mutations in one of two genes identified thus far: PKD1 (which accounts for about 85% of all cases and encodes for the polycystin-1 protein)…
Autosomal dominant polycystic kidney disease (ADPKD) acconts for about 10% of patients on dialysis in the U.S. and occurs in 1:400 – 1:2000 live births. As the disease is inherited in an autosomal dominant fashion, the question of…
