European ADPKD forum launches

The European ADPKD Forum (EAF) has been created, which is a new multidisciplinary group of leading medical and patient group experts dedicated to improving the health and quality of life of people with autosomal dominant polycystic kidney disease (ADPKD).
Source: Pharmacy Europe - Category: Drugs & Pharmacology Authors: Tags: Nephrology Autosomal dominant polycystic kidney disease genetic kidney disease Latest News multidisciplinary expert group Source Type: news

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Caroli ´s syndrome is a rare congenital disease with an incidence of 1:1,000,000 characterized by a non-obstructive segmental cystic dilation of large intrahepatic bile ducts [1]. There are two distinguishable forms: Caroli’s syndrome, which is associated with congenital hepatic fibrosis and cirrhosis a nd Caroli’s disease, a much more rare condition which is linked with autosomal recessive polycystic kidney disease [2]. Caroli’s syndrome can affect young women in their childbearing age, however, due its rare incidence there is paucity of data in the literature [2–4].
Source: European Journal of Obstetrics, Gynecology, and Reproductive Biology - Category: OBGYN Authors: Tags: Correspondence Source Type: research
Autosomal dominant polycystic kidney disease (ADPKD) is a debilitating disease that is characterized by the accumulation of numerous fluid-filled cysts in the kidney. ADPKD is primarily caused by mutations in two genes, PKD1 and PKD2. Long noncoding RNAs (lncRNA), defined by a length>200 nucleotides and absence of a long ORF, have recently emerged as epigenetic regulators of development and disease; however, their involvement in PKD has not been explored previously. Here, we performed deep RNA-Seq to identify lncRNAs that are dysregulated in two orthologous mouse models of ADPKD (kidney-specific Pkd1 and Pkd2 mutant mic...
Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: RNA Source Type: research
PKD is a genetic disease that is characterized by abnormally proliferative epithelial cells in the kidney and liver. Urinary exosomes have been previously examined as a source of unique proteins that may be us...
Source: BMC Research Notes - Category: Research Authors: Tags: Research note Source Type: research
AbstractA 40-year-old woman had been followed as an outpatient to manage chronic kidney disease secondary to autosomal dominant polycystic kidney disease (ADPKD). Atrial premature contraction was found incidentally on an electrocardiogram during her regular follow-up examination. Subsequent transthoracic echocardiography detected an abnormal structure located very close to the left ventricular outflow tract (23  mm long × 15 mm wide in diastole). The structure was finally diagnosed as congenital left ventricular diverticulum (CLVD) using transesophageal echocardiography, contrast-enhanced comp...
Source: CEN Case Reports - Category: Urology & Nephrology Source Type: research
AbstractGlycogen storage disease type I (GSDI) is a rare genetic pathology characterized by glucose-6 phosphatase (G6Pase) deficiency, translating in hypoglycemia during short fasts. Besides metabolic perturbations, GSDI patients develop long-term complications, especially chronic kidney disease (CKD). In GSDI patients, CKD is characterized by an accumulation of glycogen and lipids in kidneys, leading to a gradual decline in renal function. At a molecular level, the activation of the renin-angiotensin system is responsible for the development of renal fibrosis, eventually leading to renal failure. The same CKD phenotype wa...
Source: Journal of Inherited Metabolic Disease - Category: Internal Medicine Source Type: research
Abstract Flagella of the unicellular green alga Chlamydomonas reinhardtii are nearly identical to cilia of vertebrate cells and provide an excellent model to study ciliogenesis. Cilia and flagella are important organelles used for motility and sensing the extracellular environment. Abnormalities in cilia structure or ciliary dysfunction can have devastating consequences ranging from diabetes and obesity to polycystic kidney disease and mental retardation. Small-molecule inhibitor libraries can be used to screen for flagellum-associated phenotypes in assembly, length, motility, deflagellation, and cellular toxicity...
Source: Mol Biol Cell - Category: Molecular Biology Authors: Tags: Methods Mol Biol Source Type: research
The mammalian target of rapamycin (mTOR) pathway has been shown to be central to cyst formation and growth in patients with autosomal dominant polycystic kidney disease (ADPKD). Drugs that suppress mTOR signaling are frequently used as antiproliferative agents for maintenance immunosuppression in patients who have undergone kidney transplantation. The aim of this study was to determine the effect of sirolimus, an mTOR inhibitor, on cyst volume regression in patients with ADPKD who have undergone renal transplantation.
Source: Transplantation Proceedings - Category: Transplant Surgery Authors: Tags: Milestones in Transplantation Source Type: research
In this study, we aimed to search for molecular causative defects among PKD1 and PKD2 genes. Eighteen patients were diagnosed based on renal ultrasonography and renal/extra-renal manifestations. Then, Sanger sequencing was performed for PKD1 and PKD2 genes. Multiplex Ligation dependent Probe Amplification method (MLPA) methods was performed for both PKD genes. Mutational analysis of the PKD2 gene revealed the absence of variants and no deletions or duplications of both PKD genes were detected. But three novels mutations i.e. p.S463C exon 7; c. c.11156+2T>C IVS38 and c.8161-1G>A IVS22 and two previously reported c.152...
Source: Gene - Category: Genetics & Stem Cells Authors: Tags: Gene Source Type: research
Conclusions: Results of this trial will provide important information on the feasibility, safety, and tolerability of long-term use of metformin in patients with ­ADPKD and provide preliminary information regarding its efficacy in slowing disease progression. Furthermore, results may support or refute the hypothesis that metformin effects on disease progression are mediated through the activation of the AMPK pathway. These results will be essential for the justification and design of a full-scale efficacy trial.Am J Nephrol 2018;47:352 –360
Source: American Journal of Nephrology - Category: Neurology Source Type: research
Conclusions: ADPKD patients with moderately preserved renal function have higher levels of FasL, myostatin and urine TGF- β1 than controls. These results indicate that an interplay between endothelial dysfunction and renal ischemia with mechanisms linked to apoptosis and fibrosis may be present even in early stages of ADPKD.Kidney Blood Press Res 2018;43:744 –754
Source: Kidney and Blood Pressure Research - Category: Urology & Nephrology Source Type: research
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