Abstract Background and Aims Acute kidney injury (AKI) is not a merely transient event, which can lead to subsequent progression chronic disease (CKD). Autosomal dominant polycystic (ADPKD) the most frequent inherited caused by mutations in PKD1 or PKD2 gene. Previous studies showed that acute injuries promote cystogenesis adult mice with ADPKD. Fibrosis hallmark of AKI CKD (AKI-CKD) transition...

Abstract Background and Aims Renal fibrosis is the common pathway of various chronic kidney diseases progressing to end stage renal failure. Polycystin-1 (encoded by PKD1 gene) polycystin-2 PKD2 form a transmembrane complex function as stress sensor, which located in primary cilia. Polycystins are involved disease condition different organs. Mutation PKD genes causes autosomal dominant polycyst...

All cells detect mechanical signals, but the underlying molecular mechanisms are unclear. In this issue of Cell, Sharif-Naeini et al. (2009) show that a candidate mechanosensing channel, TRPP2 (PKD2), unexpectedly acts as an inhibitor of a still-elusive stretch-activated cation channel in vascular smooth muscle cells.

Male worm mating requires lov-1 and pkd-2 (homologs of the human polycystic kidney disease genes, PKD1 and PKD2), which are expressed in male-specific neurons. Transcriptomic analysis of these neurons now catalogs molecules involved in signaling and ectosome biogenesis, with implications for human PKD.

Genetic testing of PKD1 and PKD2 is expected to play an increasingly important role in determining allelic influences in autosomal dominant polycystic kidney disease (ADPKD) in the near future. However, to date, genetic testing is not commonly employed because it is expensive, complicated because of genetic heterogeneity, and does not easily identify pathogenic variants. In this study, we devel...

BACKGROUND Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of inherited kidney disease that results in renal failure. ADPKD is a systemic disorder with cysts and connective tissue abnormalities involving many organs. ADPKD caused by mutations in PKD1 gene is significantly more severe than the cases caused by PKD2 gene mutations. The large intra-familial variability ...

A targeted customized sequencing of genes implicated in autosomal recessive polycystic kidney disease (ARPKD) phenotype was performed to identify candidate variants using the Ion torrent PGM next-generation sequencing. The results identified four potential pathogenic variants in PKHD1 gene [c.4870C > T, p.(Arg1624Trp), c.5725C > T, p.(Arg1909Trp), c.1736C > T, p.(Thr579Met) and c.10628T > G, p....

Autosomal dominant polycystic kidney disease (ADPKD) is caused by mutation of one of two genes: PKD1 (16p13.3) or PKD2 (4q13-23). PKD1 accounts for approximately 85% of pedigrees and is associated with significantly more severe cystic disease. The ADPKD genes encode proteins, polycystin-1 and polycystin-2, which are very different in size and structure, but which have a region of homology and m...

Introduction Mutations in PKD1 and PKD2 cause autosomal dominant polycystic kidney disease (ADPKD). Experimental evidence suggests an important role of the polycystins in cardiac development and myocardial function. To determine whether ADPKD may predispose to the development of cardiomyopathy, we have evaluated the coexistence of diagnoses of ADPKD and primary cardiomyopathy in our patients. ...

Autosomal dominant polycystic kidney disease, the most common monogenetic disorder, is characterized by gradual replacement of normal renal parenchyma by fluid-filled cysts. Mutations in either PKD1 or PKD2 cause autosomal dominant polycystic kidney disease. Pkd1(-/-) or Pkd2(-/-) mice develop rapid renal cystic disease and exhibit embryonic lethality; this supports the "two-hit" hypothesis, wh...