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Showing 1 to 19 of 19 for “"autosomal dominant polycystic kidney disease"”.
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Assessing Disease Modifying Therapies in Autosomal Dominant Polycystic Kidney Disease
Background: Vasopressin stimulates cyst growth in autosomal dominant polycystic kidney disease (ADPKD) and is a key therapeutic target. Evaluation of high water intake (HWI) as an alternative to pharmacological vasopressin blockade is supported by patients. However the feasibility, safety and …
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The role of sphingolipids in autosomal dominant polycystic kidney disease (ADPKD)
Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the development of renal cysts and eventual renal failure. There is currently no cure for ADPKD, but various treatments are available to alleviate the symptoms. In ADPKD, cystic renal epithelia are prevalent …
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DIETARY FACTORS ASSOCIATED WITH THE PROGRESSION OF AUTOSOMAL DOMINANT POLYCYSTIC KIDNEY DISEASE
… cyst growth in human and animal studies of autosomal dominant polycystic kidney disease (ADPKD). However, no studies have been conducted to control such dietary constituents. Body mass index (BMI) and high-density lipoprotein (HDL), factors associated with dietary behaviors, have also been …
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Mutation detection for genotype/phenotype correlation studies in autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common genetic disorders (Gabow, 1993), with an estimated prevalence of 1 in 400 to 1 in 1000 (Dalgaard, 1957; Gabow, 1993). The disease is the fourth leading cause of renal failure with more than 10 million people affected …
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Na,K-ATPase signaling in cyst progression in autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenetic disorder of the kidney, affecting 1:500-1000 live births across the world. It is characterized by the formation and growth of fluid-filled cysts which grow larger throughout the lifetime of the patient, eventually …
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Health Care Resource Utilization and Expenditures in Persons with Autosomal Dominant Polycystic Kidney Disease
… of this study were to determine prevalence of autosomal dominant polycystic kidney disease (ADPKD), to determine all-cause health care resource utilization and all-cause health care expenditures, to determine incremental health care resource utilization, and to determine incremental health care …
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Genetic and non-genetic factors involved in modifying the clinical severity of autosomal dominant polycystic kidney disease
Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common Mendelian disorders, affecting approximately 1 in 1000 individuals. The disease is recognised as a systemic disorder, which expresses a complex phenotype between and within families. Mutations in at least two genes (PKDI …
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The structural and functional characterisation of the PLAT domain of polycystin-1
Autosomal dominant polycystic kidney disease (ADPKD) is one of the commonest monogenic disorders of man, affecting approximately 1 in 1000 of the world’s population. It is characterised by the progressive development and expansion of renal cysts, which eventually replace the normal architecture of …
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Dynamic Molecular Mechanisms and Drug Design of Important Therapeutic Targets
… the majority cases of a potentially lethal human autosomal dominant polycystic kidney disease (ADPKD). Moreover, small ubiquitin-like modifiers (SUMO) play an important role in regulation of post-translational modifications. Alterations in the SUMO E1 enzymes is linked to life-threatening …
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Heart in Polycystic Kidney Disease is Characterized by Cardiac Dysfunction and Structural Deformation
<p><strong>Background:</strong> Autosomal dominant polycystic kidney disease (PKD) is a hereditary disorder affecting multiple organs, including the heart. PKD patients have been associated with arrhythmogenic remodeling in some clinical evaluations. However, the structural changes in myocardium …
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The Role of the Ca2+-dependent protein kinase, CaMK-II, in Heart and Kidney Development in the Zebrafish, Danio rerio
… retina, pectoral fins, somites, heart, and kidney. Suppression of each gene generates unique phenotypes that mirror the mRNA expression patterns. Of the seven genes, camk2b2 and camk2g1 have the highest maternal contribution in zebrafish, are expressed in mesodermally derived organs, and …
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The nanomechanics of polycystin-1: A kidney mechanosensor
Mutations in polycystin-1 (PC1) can cause Autosomal Dominant Polycystic Kidney Disease (ADPKD), which is a leading cause of renal failure. The available evidence suggests that PC1 acts as a mechanosensor, receiving signals from the primary cilia, neighboring cells, and extracellular matrix. PC1 is …
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Molecular diagnosis in inherited polycystic kidney disease
Polycystic Kidney Disease (PKD) incorporates a number of genetically but not always phenotypically distinct inherited cystic kidney disorders. Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most frequent, with an estimated prevalence of 1:1000. Though common, there are numerous …
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QUiLT (Quantitative Ultrasound in Longitudinal Tissue Tracking): Stitching 2D images into 3D Volumes for Organ Health Monitoring
… the progression of a large multitude of diseases such as autosomal dominant polycystic kidney disease (ADPKD) and chronic liver disease (CLD). Unlike 2D property maps, 3D property maps allow for precise, consistent, and accurate longitudinal comparison because they eliminate the variabil- …
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The role of Rnd3 in kidney morphogenesis and function
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is an adult-onset, multi-systemic disorder, which affects ~12.5 million people worldwide. ADPKD is characterised by progressive kidney enlargement caused by continuous growth of cysts, alongside extra-renal phenotypes. ADPKD is caused by …
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ROLE OF THE Na,K-ATPase IN POLYCYSTIC KIDNEY DISEASE
Autosomal dominant polycystic kidney disease (ADPKD) is the most common monogenic disease, and is characterized by multiple fluid-filled cysts that impair the organ, ultimately leading to renal failure. Formation and enlargement of the cysts require abnormal proliferation and cell death, as well as …
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Single-Molecule Studies of CFTR Gating and Pharmacology
… disrupt activity cause cystic fibrosis, a fatal disease which is characterized by systemic salt and fluid dysregulation. By contrast, hyperactivation of CFTR is central to pathogenesis in secretory diarrhea and autosomal dominant polycystic kidney disease. Electrophysiological properties of CFTR …
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Development of Therapies to Treat Polycystic Kidney Disease
Polycystic kidney diseases (PKD) are genetic disorders characterized by fluid filled cysts in the kidney tubules and liver bile ducts. There are two forms of PKD, autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). The focus of the studies …