Polycystic kidney disease (PKD) is a hereditary disorder with abnormal cellular proliferation, fluid accumulation in numerous cysts, remodeling of extracellular matrix, inflammation, and fibrosis in the kidney and liver. The two major types of PKD show autosomal dominant (ADPKD) or autosomal recessive inheritance (ARPKD). ADPKD is one of the most common genetic diseases, with an incidence of 1:...

Polycystic kidney disease (PKD), the most common genetic cause of chronic renal failure, is characterized by the presence of numerous fluid-filled cysts in renal parenchyma. Despite recent progress, no FDA-approved therapy is available to retard cyst growth. Here, we review current evidence implicating two groups of miRNAs - the miR-17~92 cluster and miR-200s - in the pathogenesis of PKD. We pr...

abstract background: autosomal dominant polycystic kidney disease (adpkd) is an inherited disorder with genetic heterogeneity. up to three loci are involved in this disease, pkdi on chromosome 16p13.3, pkd2 on 4q21, and a third locus of unknown location. methods: here we report the first molecular genetic study of adpkd and the existence oflocus heterogeneity for adpkd in the iranian population...

Patients with polycystic kidney disease (PKD) have a high risk of developing renal cell carcinoma (RCC). SET domain–containing 2(SETD2) is the only molecule known to regulate lysine trimethylation (H3K3me3) histone H3 in human tissue, and SETD2 identified as tumor suppressor ccRCC. Although there are some studies revealing mechanism about PKD ccRCC, underlying remains largely reported. We colle...

Polycystic kidney disease (PKD) can arise from either developmental or postdevelopmental processes. Recessive PKD, caused by mutations in PKHD1, is a developmental defect, whereas dominant PKD, caused by mutations in PKD1 or PKD2, occurs by a cellular recessive mechanism in mature kidneys. Oriented cell division is a feature of planar cell polarity that describes the orientation of the mitotic ...

Polycystic kidney disease (PKD) is the most common inherited renal disorder that results in chronic kidney disease. PKD has an autosomal dominant pattern of inheritance. The prevalence is between 1:500 and 1:1,000. Up to 10% of adults with end-stage renal disease (ESRD) have a genetic disorder such as PKD. A family history of PKD may be absent in up to 25% of affected individuals. The most comm...

Description of the eviDence collection methoD The literature review of scientific articles in this guideline was held in the databases Medline, Cochrane and SciELO. The search for evidence came from actual clinical scenarios and used keywords (MeSH terms) grouped in the following syntax: adult dominant polycystic kidney disease; adult recessive polycystic kidney disease; PKD mutation; PKDH1 mut...

The biguanide metformin has been safely and widely used in the treatment of type 2 diabetes mellitus for decades. Preclinical studies have suggested that it may a role slowing disease progression autosomal dominant polycystic kidney disease. In this issue, Perrone et al. report results from Trial Administration Metformin PKD (TAME PKD) study, phase randomized controlled trial investigati...

Primary cilia are nonmotile, microtubule-based, antenna-like organelles projecting from the apical surface of most mammalian cells. Elegant studies have established the importance of ciliary structure and function in signal transduction and the sensory roles of cilia in maintaining healthy cellular state. In particular, dysfunctional cilia have been implicated in a large number of diseases main...

Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of inherited kidney disease that results in renal failure. PKD currently has no causative therapy. However, some treatment options are available, ranging from symptomatic therapy to delaying the onset of end-stage renal failure. Early diagnosis of adult polycystic kidney disease is vital in order to prevent its complic...