Autosomal-recessive polycystic kidney disease [PDF]
Kidney International, 2005 Keywords: end-stage renal disease, congenital hepatic fibrosis, Bardet-Biedel syndrome ...
P. Parfrey
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Educational Case: Autosomal Recessive Polycystic Kidney Disease [PDF]
Academic Pathology, 2017 The following fictional case is intended as a learning tool within the Pathology Competencies for Medical Education (PCME), a set of national standards for teaching pathology. These are divided into three basic competencies: Disease Mechanisms and Processes, Organ System Pathology, and Diagnostic Medicine and Therapeutic Pathology.
Richard M. Conran, Ashley S Hafer
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A Potential Therapy Using Antisense Oligonucleotides to Treat Autosomal Recessive Polycystic Kidney Disease. [PDF]
J Clin Med, 2023 (1) Background: Autosomal recessive polycystic kidney disease (ARPKD) is a rare ciliopathy characterized by progressively enlarged kidneys with fusiform dilatation of the collecting ducts.
Li H +9 more
europepmc +2 more sources
Design of two ongoing clinical trials of tolvaptan in the treatment of pediatric patients with autosomal recessive polycystic kidney disease. [PDF]
BMC Nephrol, 2023 Purpose Autosomal recessive polycystic kidney disease (ARPKD) is a hereditary condition characterized by massive kidney enlargement and developmental liver defects.
Mekahli D +8 more
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Autosomal dominant and autosomal recessive polycystic kidney disease: hypertension and secondary cardiovascular effect in children. [PDF]
Front Mol Biosci, 2023 Autosomal dominant (ADPKD) and autosomal recessive (ARPKD) polycystic kidney disease are the most widely known cystic kidney diseases. They are significantly different from each other in terms of genetics and clinical manifestations.
Lucchetti L +3 more
europepmc +2 more sources
Prenatal diagnosis by ultrasound in pregnancies at risk for autosomal recessive polycystic kidney disease [PDF]
, 1990 In 15 pregnancies at risk of the autosomal recessive type of polycystic kidney disease (ARPKD), there were six recurrences (40%), five of which were diagnosed prenatally between 17 and 26 weeks (mean, 22 weeks).
Niermeijer, M.F. (Martinus) +3 more
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TRPV4 functional status in cystic cells regulates cystogenesis in autosomal recessive polycystic kidney disease during variations in dietary potassium. [PDF]
Physiol Rep, 2023 Mechanosensitive TRPV4 channel plays a dominant role in maintaining [Ca2+]i homeostasis and flow‐sensitive [Ca2+]i signaling in the renal tubule. Polycystic kidney disease (PKD) manifests as progressive cyst growth due to cAMP‐dependent fluid secretion ...
Pyrshev K +8 more
europepmc +2 more sources
New rat model that phenotypically resembles autosomal recessive polycystic kidney disease [PDF]
, 2000 Numerous murine models of polycystic kidney disease (PKD) have been described. While mouse models are particularly well suited for investigating the molecular pathogenesis of PKD, rats are well established as an experimental
Dokkum, R.P.E. (Richard) van +8 more
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Temporal Profile of Kynurenine Pathway Metabolites in a Rodent Model of Autosomal Recessive Polycystic Kidney Disease. [PDF]
Int J Tryptophan Res, 2022 Autosomal recessive polycystic kidney disease (ARPKD) is an early onset genetic disorder characterized by numerous renal cysts resulting in end stage renal disease.
Pires AS +7 more
europepmc +2 more sources
Kidney concentrating capacity in children with autosomal recessive polycystic kidney disease is linked to glomerular filtration and hypertension. [PDF]
Pediatr Nephrol, 2023 Impaired kidney concentration capacity is present in half of the patients with autosomal dominant polycystic kidney disease (ADPKD). The kidney concentrating capacity was further impaired within the animal model of autosomal recessive polycystic kidney ...
Seeman T +6 more
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