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Showing 1 to 20 of 41 for “"polycystic kidney disease"”.
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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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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 …
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Targeting Glutamine Metabolism in Kidney Development and Polycystic Kidney Disease
Polycystic kidney disease is a hereditary disorder characterized by the progressive manifestation of numerous fluid-filled sacs, known as cysts, within the renal epithelia. The enlargement of the cysts causes the gradual replacement of normal kidney parenchyma which leads to impairment of renal …
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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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Assessing Disease Modifying Therapies in Autosomal Dominant Polycystic Kidney Disease
… 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 adherence-promoting …
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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
… 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 reported to …
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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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Leveraging cellular models of polycystic kidney disease for mechanistic discovery and therapeutic development
Polycystic kidney disease (PKD) is a life-threatening disorder characterized by the progressive expansion of fluid-filled cysts originating from kidney tubules. As the leading monogenic cause of renal failure, PKD affects 1 in ~1,000 people with 50% of patients meeting criteria for end-stage renal …
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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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Heart in Polycystic Kidney Disease is Characterized by Cardiac Dysfunction and Structural Deformation
… 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 and …
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The genetic interactions of PKHD1 and ATMIN in autosomal recessive polycystic kidney disease (ARPKD)
The main gene associated with Autosomal Recessive Polycystic Kidney Disease (ARPKD) is PKHD1 which encodes a ciliary protein associated with planar cell polarity. In mice, mutations in the transcription factor Atmin can present with an ARPKD-like phenotype with kidney disease similar to an early …
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Health Care Resource Utilization and Expenditures in Persons with Autosomal Dominant Polycystic Kidney Disease
… 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 expenditures …
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Targeting Primary Cilia Immune Receptor Proteins for the Treatment of Polycystic Kidney Disease Mechanisms
… organogenesis, health, and others genetic diseases. Primary cilium functions as a mechano-sensor and chemo-sensor. Defect in primary cilia causes the progression of polycystic kidney disease (PKD) which further leads to the inflammatory responses. We, therefore, investigated the role of …
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An in vivo study of novel genetic modifiers in autosomal recessive polycystic kidney disease (ARPKD)
Autosomal Recessive Polycystic Kidney Disease (ARPKD) is a rare genetic disorder that manifests with bilaterally enlarged, cystic kidneys, hepatic fibrosis and pulmonary hypoplasia, with death reported in around 30 – 50% of affected neonates. Mutations in PKHD1 and DZIP1L have been identified as …
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Using Dictyostelium discoideum to develop flavonoid therapeutics for polycystic kidney disease: the role of MATE transporters
… naringenin specifically inhibiting cyst-forming kidney disease. D. discoideum is a valuable model organism for studying both cell biology and processes in human health and disease. Its genome was sequenced some years ago and the amoeba is well studied, but two genes encoding MATE proteins had not …
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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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Investigating Feeding Omega-3 Polyunsaturated Fatty Acids and/or Soy Protein Isolate to Female pck Rats on Polycystic Kidney Disease and Related Complications
Polycystic kidney disease (PKD) is a genetic disorder characterized by multiple benign cysts along the epithelial lining of the kidneys. As PKD progresses, cyst growth increases kidney volume, decreases renal function, and may eventually lead to end stage renal disease. In addition to renal …
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