Results 41 to 50 of about 46,029 (270)
Metabolism-based approaches for autosomal dominant polycystic kidney disease
Frontiers in Molecular Biosciences, 2023 Autosomal Dominant Polycystic Kidney Disease (ADPKD) leads to end stage kidney disease (ESKD) through the development and expansion of multiple cysts throughout the kidney parenchyma.
Ivona Bakaj, Alessandro Pocai
doaj +1 more source
Insights into Autosomal Dominant Polycystic Kidney Disease from Genetic Studies.
American Society of Nephrology. Clinical Journal, 2020 Autosomal dominant polycystic kidney disease is the most common monogenic cause of ESKD. Genetic studies from patients and animal models have informed disease pathobiology and strongly support a "threshold model" in which cyst formation is triggered by ...
M. Lanktree +4 more
semanticscholar +1 more source
Chronic subdural haematoma and arachnoid cyst in autosomal dominant polycystic kidney disease (ADPKD) [PDF]
, 2005 We present the unusual association between chronic subdural haematoma (CSDH), intracranial arachnoid cyst and autosomal dominant polycystic kidney disease (ADPKD) in a 27-year-old man. CSDH is a documented complication of intracranial arachnoid cyst, the
Leung, GKK, Yiu, WF
core +1 more source
Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato +2 more
wiley +1 more source
American Society of Nephrology. Clinical Journal, 2020 Autosomal dominant polycystic kidney disease is characterized by progressive development and enlargement of kidney cysts, leading to ESKD. Because the kidneys are under high metabolic demand, it is not surprising that mounting evidence suggests that a ...
Kristen L. Nowak, Katharina Hopp
semanticscholar +1 more source
Pkd2 dosage influences cellular repair responses following ischemia-reperfusion injury [PDF]
, 2009 Autosomal dominant polycystic kidney disease (ADPKD) results from mutations in either PKD1 or PKD2 and accounts for 10% of all patients on renal replacement therapy. The kidney disease phenotype is primarily characterized by cyst formation, but there are
Haylor, J.L. +4 more
core +2 more sources
TAMEing ADPKD with metformin:safe and effective? [PDF]
, 2021 The biguanide metformin has been safely and widely used in the treatment of type 2 diabetes mellitus for decades. Preclinical studies have suggested that it may have a role in slowing disease progression in autosomal dominant polycystic kidney disease ...
Gansevoort, Ron T, Ong, Albert C M
core +1 more source
Assessing the Impact of Imaging Parameters on MRI Measurement of Kidney T2
Journal of Magnetic Resonance Imaging, EarlyView.ABSTRACT Background T2‐mapping has promise to evaluate kidney pathophysiology. Prior studies show a large variance in kidney T2, likely due to the differing acquisition sequences. Purpose To compare four T2‐mapping sequences to investigate kidney T2. Study Type Phantom and prospective in vivo assessments.
Alexander J. Daniel, Susan T. Francis
wiley +1 more source
Case Reports in Medicine, 2012 Patients with autosomal dominant polycystic kidney disease become symptomatic and are diagnosed usually at adulthood. The rate of nephrolithiasis in these patients is 5–10 times the rate in the general population, and both anatomic and metabolic ...
Fatih Firinci +4 more
doaj +1 more source
Renal cysts in children: a single centre study
Pediatria i Medycyna Rodzinna, 2018 Kidney cysts may be congenital (associated or not with genetic disorders) or rarely acquired. They may be an isolated abnormality or be part of an anomaly syndrome.
Anna Medyńska +5 more
doaj +1 more source