Severe autosomal dominant polycystic kidney disease [PDF]
BMJ Case Reports, 2018 A 61-year-old man with a known history of autosomal dominant polycystic kidney disease (ADPKD) and stage IV chronic kidney disease presented with a 6-month history of abdominal pain, nausea, vomiting and fatigue. In addition to the ADPKD, the right kidney had a 4.4 cm inferior pole mass concerning for renal cell carcinoma (RCC).
Neal S Gerstein +2 more
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Dual mTOR/PI3K inhibition limits PI3K-dependent pathways activated upon mTOR inhibition in autosomal dominant polycystic kidney disease [PDF]
, 2018 Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the development of kidney cysts leading to kidney failure in adulthood. Inhibition of mammalian target of rapamycin (mTOR) slows polycystic kidney disease (PKD) progression in ...
Arcaro, Alexandre +10 more
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An Unusual Cardiac Manifestation in Autosomal Dominant Polycystic Kidney Disease
Case Reports in Nephrology, 2012 Autosomal dominant polycystic kidney disease is a common hereditary disorder characterized by renal and extrarenal, cystic and noncystic manifestations. Connective tissue defects, including cerebral aneurysm, meningeal diverticula, abdominal wall hernias,
Fausta Catapano +6 more
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Autosomal dominant polycystic kidney disease in Colombia
BMC Nephrology, 2023 Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of chronic kidney disease (CKD) that requires dialysis.
Jessica T. Camargo +6 more
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Identification of an N-terminal glycogen synthase kinase 3 phosphorylation site which regulates the functional localisation of polycystin-2 in vivo and in vitro [PDF]
, 2006 PKD2 is mutated in 15% of patients with autosomal dominant polycystic kidney disease (ADPKD). Polycystin-2 (PC2), the PKD2 protein, is a nonselective Ca2 + -permeable cation channel which may function at the cell surface and ER. Nevertheless, the factors
Kane, M.E. +4 more
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Autosomal dominant polycystic kidney disease
Srpski arhiv za celokupno lekarstvo, 2008 Autosomal dominant polycystic kiney disease is a hereditary systemic disorder, characterized by the developement of cysts, mainly in the kidney and liver, also with gastrointestinal and cardiovascular abnormalities. It affects 4 to 6 million people wordwide and accounts for end-stage renal disease in 7-10% of dialysis patients.
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Aberrant Polycystin-1 Expression Results in Modification of Activator Protein-1 Activity, whereas Wnt Signaling Remains Unaffected [PDF]
, 2004 Polycystin-1, the polycystic kidney disease 1 gene product, has been implicated in several signaling complexes that are known to regulate essential cellular functions. We investigated the role of polycystin-1 in Wnt signaling and activator protein-1 (
Arnould +37 more
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Polycystic Kidney Disease Drug Development: A Conference Report
Kidney Medicine, 2023 Autosomal dominant polycystic kidney disease (ADPKD) is part of a spectrum of inherited diseases that also includes autosomal recessive polycystic kidney disease, autosomal dominant polycystic liver disease, and an expanding group of recessively ...
Max C. Liebau +4 more
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Urinary proteomics using capillary electrophoresis coupled to mass spectrometry for diagnosis and prognosis in kidney diseases [PDF]
, 2016 Purpose of review: Urine is the most useful of body fluids for biomarker research. Therefore, we have focused on urinary proteomics, using capillary electrophoresis coupled to mass spectrometry, to investigate kidney diseases in recent years.
Magalhães, Pedro +2 more
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Caroli′s syndrome in a post renal transplant patient: Case report and review of the literature
The Saudi Journal of Gastroenterology, 2012 Caroli′s syndrome is characterized by bile duct ectasia in association with hepatic fibrosis. It is usually transmitted in an autosomal recessive fashion and has been well documented to be associated with autosomal recessive polycystic kidney disease and
Muhammad Z Bawany +2 more
doaj +1 more source