Autosomal recessive polycystic kidney disease (ARPKD) is usually characterized by early onset chronic renal failure due to innumerable dilated collecting ducts. Hepatic fibrosis is an obligate sign. Here, for the first time, we report a 31-year-old female with ARPKD who was diagnosed with symptomatic multiple intracranial aneurysms, a manifestation previously only known to be associated with autosomal dominant polycystic kidney disease (ADPKD).
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Epigenetics in autosomal dominant polycystic kidney disease.
Biochim Biophys Acta Mol Basis Dis
January 2025
Department of Nephrology, Shanghai East Hospital, Tongji University School of Medicine, Shanghai, China; Department of Medicine, Rhode Island Hospital and Alpert Medical School, Brown University, Providence, RI, USA. Electronic address:
Autosomal dominant polycystic kidney disease (ADPKD) is the fourth leading cause of end-stage renal disease, contributing substantially to patient morbidity, mortality, and healthcare system strain. Emerging research highlights a pivotal role of epigenetics in ADPKD's pathophysiology, where mechanisms like DNA methylation, histone modifications, and non-coding RNA regulation significantly impact disease onset and progression. These epigenetic factors influence gene expression and regulate key processes involved in cyst formation and expansion, fibrosis, and inflammatory infiltration, thus accelerating ADPKD progression.
View Article and Find Full Text PDFKidney Stone Disease and Progression Risk in Autosomal Dominant Polycystic Kidney Disease: A Post Hoc Analysis of OVERTURE.
Kidney360
September 2024
Otsuka Pharmaceutical Development & Commercialization, Inc., Rockville, Maryland.
Cardiovascular changes in Persian cats with polycystic kidney disease: a study of cardiac troponin I, echocardiography and blood pressure.
J Feline Med Surg
January 2025
Department of Clinical Science, Science and Research Branch, Islamic Azad University, Tehran, Iran.
Objectives: Cardiovascular complications are well known in humans with autosomal dominant polycystic kidney disease (PKD), but limited data exist for cats. This study aimed to assess echocardiographic changes, cardiac troponin I (cTnI) levels and systolic blood pressure (SBP) in Persian cats with PKD to detect early cardiac abnormalities.
Methods: In total, 52 Persian and mixed-Persian cats were enrolled, with 26 cats in the control group and 26 diagnosed with PKD via ultrasound due to the unavailability of genetic testing.
Endoplasmic Reticulum-Associated Degradation: A Novel Therapeutic Avenue for ADPKD.
Am J Physiol Cell Physiol
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Department of Molecular Pharmacology, University of South Florida, Tampa, FL 33602.
Change in kidney volume growth rate and renal outcomes of tolvaptan treatment in autosomal dominant polycystic kidney disease: post-hoc analysis of TEMPO 3:4 trial.
Clin Exp Nephrol
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Otsuka Pharmaceutical Development and Commercialization, Princeton, NJ, USA.
Background: Despite of long-lasting tolvaptan treatment, individual renal outcomes are unclear in autosomal dominant polycystic kidney disease (ADPKD). This post-hoc analysis of the TEMPO 3:4 trial aimed to evaluate the predictability of estimated height-adjusted total kidney volume growth rate (eHTKV-α) on renal outcomes.
Methods: In TEMPO 3:4, 1445 patients with ADPKD were randomised to tolvaptan or placebo for 3 years.
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