Kidney: polycystic kidney disease

Abstract

Polycystic kidney disease (PKD) is a life‐threatening genetic disorder characterized by the presence of fluid‐filled cysts primarily in the kidneys. PKD can be inherited as autosomal recessive (ARPKD) or autosomal dominant (ADPKD) traits. Mutations in either the PKD1 or PKD2 genes, which encode polycystin 1 and polycystin 2, are the underlying cause of ADPKD. Progressive cyst formation and renal enlargement lead to renal insufficiency in these patients, which need to be managed by lifelong dialysis or renal transplantation. While characteristic features of PKD are abnormalities in epithelial cell proliferation, fluid secretion, extracellular matrix and differentiation, the molecular mechanisms underlying these events are not understood. Here we review the progress that has been made in defining the function of the polycystins, and how disruption of these functions may be involved in cystogenesis. WIREs Dev Biol 2014, 3:465–487. doi: 10.1002/wdev.152 This article is categorized under: Signaling Pathways > Global Signaling Mechanisms Birth Defects > Organ Anomalies

Vascular endothelial growth factor as an angiogenesis biomarker for the progression of autosomal dominant polycystic kidney disease

“…Hypertension, described as the most common clinical manifestation of ADPKD (Paul and Vanden Heuvel, 2014), was observed in 79% of the patients, which was similar to the percentage (71%) reported by Taylor et al (2005). However, hypertension showed no relevance in the regression analysis, although it has been previously considered as the most common clinical manifestation of ADPKD (Kazancioglu et al, 2011), and has been related to disease progression (Ozkok et al, 2013).…”

Linkage Analysis of Autosomal Dominant Polycystic Kidney Disease in Iranian Families through PKD1 and PKD2 DNA Microsatellite Markers

“…The incidence of ADPKD is about 1 in 500 to 1 in 1000 in western countries, however, there is no updated and comprehensive data regarding the polymorphic linkage markers pattern among the Iranian population. Up to 50% of patients with ADPKD require renal replacement therapy by 60 years (1). The frequency of ADPKD is high as compared to other prominent genetic disorders, approximately 10, 15, and 20 times higher than sickle cell anemia, cystic fibrosis, and Huntington's disease, respectively.…”

New Insights into the Molecular Mechanisms Targeting Tubular Channels/Transporters in PKD Development

“…Polycystic kidney disease (PKD) is one of the most common hereditary kidney diseases in the world [1,2]. The incidence of autosomal dominant PKD (ADPKD) is 1 in 500-1,000, whereas the autosomal recessive PKD (ARPKD) only affects 1 in 20,000 individuals [1].…”

“…Exuberant fluid secretion and cell proliferation drive the expansion of innumerous fluid-filled cysts in both kidneys of PKD patients [1,2]. In ADPKD, renal cysts develop in all segments of the nephron but predominantly originate from the collecting duct [3].…”

“…The incidence of autosomal dominant PKD (ADPKD) is 1 in 500-1,000, whereas the autosomal recessive PKD (ARPKD) only affects 1 in 20,000 individuals [1]. ADPKD is caused by mutations in either the PKD1 or the PKD2 gene, which encodes polycystin-1 or polycystin-2, respectively.…”