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Typical Clinical Presentation of an Autosomal Dominant Polycystic Kidney Disease Patient with an Atypical Genetic Pattern.
Genes (Basel)
December 2024
The International Renal Research Institute of Vicenza (IRRIV) Foundation, ULSS 8 BERICA, San Bortolo Hospital, 36100 Vicenza, Italy.
: Autosomal Dominant Polycystic Kidney Disease (ADPKD) is mainly characterized by renal involvement with progressive bilateral development of renal cysts and volumetric increase in the kidneys, causing a loss of renal function, chronic kidney disease (CKD), and kidney failure. The occurrence of mosaicism may modulate the clinical course of the disease. Mosaicism is characterized by a few cell populations with different genomes.
View Article and Find Full Text PDFA novel rapalog shows improved safety vs. efficacy in a human organoid model of polycystic kidney disease.
Stem Cell Reports
January 2025
Department of Medicine, Division of Nephrology, Institute for Stem Cell & Regenerative Medicine, and Kidney Research Institute, University of Washington School of Medicine, Seattle, WA 98109, USA; Plurexa LLC, Seattle, WA 98109, USA. Electronic address:
The mammalian target of rapamycin (mTOR) pathway is a therapeutic target in polycystic kidney disease (PKD), but mTOR inhibitors such as everolimus have failed to show efficacy at tolerated doses in clinical trials. Here, we introduce AV457, a novel rapalog developed to reduce side effects, and assess its dose-dependent safety and efficacy versus everolimus in PKD1 and PKD2 human kidney organoids, which form cysts in a PKD-specific way. Both AV457 and everolimus reduce cyst growth over time.
View Article and Find Full Text PDFCardiac manifestations of autosomal dominant polycystic kidney disease.
Eur Heart J Imaging Methods Pract
January 2025
Department of Cardiology, Cardiovascular Research Institute Basel, University Hospital Basel, University of Basel, Basel, Switzerland.
CT angiography of acute aortic syndrome in patients with chronic kidney disease.
Int J Cardiovasc Imaging
January 2025
Department of Clinical Radiology, AHEPA University Hospital of Thessaloniki, Aristotle University of Thessaloniki, Thessaloniki, Greece.
The term acute aortic syndrome (AAS) refers to a range of different entities, including dissection, intramural haematoma and penetrating atherosclerotic ulcer. Patients with chronic renal disease and particularly those with dominant polycystic kidney disease are susceptible to this pathology, given the underlying renal arteriopathy and hypertension. Imaging plays a crucial role in diagnosing, grading and guiding management of these patients, with computed tomography angiography (CTA) being on the frontline.
View Article and Find Full Text PDFNephrectomy in Autosomal Dominant Polycystic Kidney Disease: A consensus statement of the ERA Genes & Kidney Working Group.
Nephrol Dial Transplant
January 2025
Department of Urology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
A substantial number of patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD) undergo a nephrectomy, especially in work-up for a kidney transplantation. Currently, there is no evidence-based algorithm to guide clinicians which patients should undergo nephrectomy, the optimal timing of this procedure, or the preferred surgical technique. This systematic review-based consensus statement aimed to answer important questions regarding nephrectomy in ADPKD.
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