Epidemiology of Autosomal Dominant Polycystic Kidney Disease in Olmsted County.

CONCLUSIONS: The point prevalence of definite and likely ADPKD observed in this study is higher than those reported in the literature, but lower than genetic prevalence based on estimates of disease expectancy or on analysis of large population-sequencing databases. PMID: 31791998 [PubMed - as supplied by publisher]
Source: Clinical Journal of the American Society of Nephrology : CJASN - Category: Urology & Nephrology Authors: Tags: Clin J Am Soc Nephrol Source Type: research

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We report the case of a 71-year-old Japanese woman who complained of hemiparesis. She required maintenance hemodialysis therapy with a background of ADPKD. Cerebral infarction was initially diagnosed by excluding intracranial hemorrhage and aneurysm rupture that are recognized as common complications of ADPKD and thereby anticoagulation therapy was initiated. However, the patient was suspected as having painless aortic dissection because a chest X-ray examination showed expanded upper mediastinum. Sequential vascular imagings revealed dissection of the aorta, originating from brachiocephalic trunk to the right common carot...
Source: CEN Case Reports - Category: Urology & Nephrology Source Type: research
Publication date: Available online 23 January 2020Source: American Journal of Kidney DiseasesAuthor(s): Abdelaziz Akarkach, Kathrin Burgmaier, Anja Sander, Nakysa Hooman, Lale Sever, Francisco Cano, Pedro Zambrano, Ilmay Bilge, Joseph T. Flynn, Onder Yavascan, Patricia G. Vallés, Reyner Loza Munarriz, Hiren P. Patel, Erkin Serdaroglu, Vera H. Koch, Angela del Carmen Suarez, Monica Galanti, Claudia Gonzalez Celedon, Anabella Rébori, Jameela A. Kari
Source: American Journal of Kidney Diseases - Category: Urology & Nephrology Source Type: research
Abstract PURPOSE OF REVIEW: microRNAs (miRNAs) are a class of small, evolutionarily conserved, non-coding RNAs (ncRNAs) that function as inhibitors of post-transcriptional mRNA expression. They are implicated in the pathogenesis of numerous diseases, including many common kidney conditions. In this review, we focus on how miRNAs impact autosomal dominant polycystic kidney disease (ADPKD) progression. We also discuss the feasibility of the emerging novel antisense oligonucleotides (ASOs) drug class, which includes anti-miRNA drugs, for the treatment of ADPKD. RECENT FINDINGS: Aberrant miRNA expression is obser...
Source: Cellular Signalling - Category: Cytology Authors: Tags: Cell Signal Source Type: research
Pan He Consistent with the gene dosage effect hypothesis, renal cysts can arise in transgenic murine models overexpressing either PKD1 or PKD2, which are causal genes for autosomal dominant polycystic kidney disease (ADPKD). To determine whether PKD gene overexpression is a universal mechanism driving cystogenesis or is merely restricted to rodents, other animal models are required. Previously, we failed to observe any renal cysts in a transgenic porcine model of PKD2 overexpression partially due to epigenetic silencing of the transgene. Thus, to explore the feasibility of porcine models and identify potential ge...
Source: Genes - Category: Genetics & Stem Cells Authors: Tags: Article Source Type: research
Mosaicism is defined as the presence of 2 genetically different populations of cells in a single organism, resulting from a mutation during early embryogenesis. Hopp et  al. characterized mosaicism in 20 unresolved ADPKD families, using next-generation sequencing techniques with DNA isolated from blood cells. Mosaicism may be involved in 1% of ADPKD families, and it may explain some atypical disease phenotypes.
Source: Kidney International - Category: Urology & Nephrology Authors: Tags: Commentary Source Type: research
AbstractClear ‐cell renal cell carcinoma (ccRCC) presents challenges to clinical management because of late‐stage detection, treatment resistance, and frequent disease recurrence. Metabolically, ccRCC has a well‐described Warburg effect utilization of glucose, but how this affects complex carbohydrate synth esis and alterations to protein and cell surface glycosylation is poorly defined. Using an imaging mass spectrometry approach, N‐glycosylation patterns and compositional differences were assessed between tumor and nontumor regions of formalin‐fixed clinical ccRCC specimens and tissue microarrays . Regions of n...
Source: Journal of Mass Spectrometry - Category: Chemistry Authors: Tags: SPECIAL ISSUE ‐ RESEARCH ARTICLE Source Type: research
Abstract AIMS: Klotho interacts with various membrane proteins such as receptors for transforming growth factor (TGF) β and insulin-like growth factor (IGF). Renal expression of klotho is diminished in polycystic kidney disease (PKD). In the present study, the effects of klotho supplementation on PKD were assessed. METHODS: Recombinant human klotho protein (10 μg/kg/day) or a vehicle was administered daily by subcutaneous injection to 6-week-old mice with PKD (DBA/2-pcy). Blood pressure was measured using tail-cuff methods. After 2 months, the mice were killed, and the kidneys were harvested for analy...
Source: Am J Physiol Renal P... - Category: Urology & Nephrology Authors: Tags: Am J Physiol Renal Physiol Source Type: research
Acta Pharmacologica Sinica, Published online: 07 January 2020; doi:10.1038/s41401-019-0329-2Ganoderic acid A is the effective ingredient of Ganoderma triterpenes in retarding renal cyst development in polycystic kidney disease
Source: Acta Pharmacologica Sinica - Category: Drugs & Pharmacology Authors: Source Type: research
Abstract Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common life-threatening monogenetic diseases characterized by progressive enlargement of fluid-filled renal cysts. Our previous study has shown that Ganoderma triterpenes (GT) retards PKD renal cyst development. In the present study we identified the effective ingredient of GT in suppression of kidney cyst development. Using an in vitro MDCK cystogenesis model, we identified ganoderic acid A (GA-A) as the most promising candidate among the 12 ganoderic acid (GA) monomers. We further showed that GA-A (6.25-100 μM) significant...
Source: Acta Pharmacologica Sinica - Category: Drugs & Pharmacology Authors: Tags: Acta Pharmacol Sin Source Type: research
Conclusion Despite similar dialysis intensity, the composite neonatal morbidity was higher in women with renal failure caused by diabetes or lupus compared with other etiologies. Our findings suggest that pregnancy outcome in women receiving dialysis is dependent on both the intensity of dialysis as well as the etiology of renal failure. [...] Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.Article in Thieme eJournals: Table of contents  |  Abstract  |  Full text
Source: American Journal of Perinatology - Category: Perinatology & Neonatology Authors: Tags: SMFM Fellowship Series Article Source Type: research
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