ADPKD Cohort Study
Autosomal Dominant Polycystic Kidney DiseaseThe purpose of this study is to find out if radiology tests of the kidneys as opposed to glomerular filtration (GFR) tests (GFR test - a lab test that measures kidney function) follow progression of polycystic kidney disease (PKD) the best. PKD patients at risk for progression to renal failure (dialysis or transplantation) have been identified and include those who have been diagnosed with high blood pressure early, the presence of the PKD1 gene (the inherited abnormality responsible for the majority of PKD), men as opposed to women, those with episodes of visible blood or increased protein in their urine, and women who have experience more than three pregnancies. Individuals who are diagnosed with PKD in the first year of life or in utero (before birth) are also at high risk for progression to renal failure. This study will also facilitate understanding of human diseases at the cellular and molecular level. We will be identifying genetic factors that may influence the severity of polycystic kidney disease (PKD). You are being asked to provide a sample of blood for the purpose of DNA or other biochemical analyses.
Urologic-nephrological Care of Chronic Kidney Disease in Saxony-Anhalt/Magdeburg.
Chronic Kidney Disease (CKD)Statement: Patients with Chronic kidney disease (CKD) with an estimated glomerular filtration rate (eGFR) under 60 ml/min using the MDRD-6 (Modification of Diet in Renal Disease) formula and/or CKD-EPI (Chronic Kidney Disease Epidemiology Collaboration) formula should undergo nephrological and urological care (diagnosis and treatment) to prevent chronic kidney failure. This is recommended by the National Kidney Foundation Kidney Disease Outcomes Quality Initiative (KDOQI), Kidney Disease Improving Global Outcomes (KDIGO) and European Urological Association (EAU). Renal and postrenal diseases can cause or worsen CKD. Internistic and intrarenal diseases can caused or worsen CKD. All diseases affecting CKD should be treated and the medical care should be optimized. Hypothesis: Not all patients with CKD receive urological and nephrological care. Interdisciplinary work of outpatient working urologists and nephrologists in the metropolitan area Magdeburg / Saxony-Anhalt Germany is unknown. An descriptive analysis of interdisciplinary treatment connection of CKD patients for an orientating statement is needed.
Endolymphatic Sac Tumors in a Population of Patients With Von Hippel-Lindau Disease:The Natural...
DeafnessKidney Diseases3 moreThe von Hippel Lindau (VHL) gene has recently been identified as the genetic defect resulting in a syndrome of multiple neoplasias. Patients with VHL disease develop retinal angiomata, renal cysts and/or carcinomas, CNS hemangioblastomas as well as pancreatic cysts and pheochromocytomas. Investigators have shown the gene to be a tumor suppressor type proto-oncogene located at chromosomal locus 3p26. The gene includes three exons whose gene product targets a cellular transcription factor Elongin SIII. Binding of the VHL proteins to two subunits of this elongation factor inhibits transcription and may play a crucial role in the clinical development of the von Hippel Lindau phenotype.
Diurnal Variation of Uremic Solutes in Peritoneal Dialysis
Chronic Kidney DiseaseStudy on the daytime variation of uremic retention solutes and markers of bone-mineral metabolism in patients with end-stage kidney disease treated with peritoneal dialysis
Evaluation of the Risk of Nephrogenic Systemic Fibrosis (NSF) in Patients With Chronic Kidney Disease...
Renal InsufficiencyThe objective of this long term study is to prospectively evaluate the incidence of NSF in patients with severe CKD or kidney failure including patients undergoing dialysis (stages 4 and 5 i.e., with an eGFR below 30)who have not had exposure to a GBCA within 10 years prior to enrollment.
Vascular Changes Following Forearm Loop Arteriovenous Graft Placement
Chronic Kidney DiseaseThis study will determine whether upper arm vessels increase in size following forearm loop arteriovenous graft placement and the timing of these changes.
Association of AGTR1 and ACACB Gene Polymorphism and Diabetic Nephropathy in Type 2 Diabetes
Diabetes MellitusType 2India is the "Diabetes Capital of the World" with 41 million Indians having diabetes, with every fifth diabetic in the world being an Indian and type 2 Diabetes Mellitus (T2DM) constitutes the major chunk of diabetes. One of the most severe complications of diabetes is the development of diabetic nephropathy. Diabetic nephropathy (DN) is the leading cause of end-stage renal disease (ESRD) worldwide. There are many identifiable risk factors of diabetic nephropathy like hyperglycemia, hyperlipidemia, hypertension, and proteinuria, the genetic factor is the main among all. Long-term observational studies show that nearly 30-35% of type 2 diabetic patients develop nephropathy, irrespective of glycemic control. The regional variation in diabetes prevalence and in the proclivity for diabetes induced renal disease; along with reports of familial clustering of nephropathy suggest a possible genetic basis. The renin-angiotensin system (RAS) has been strongly implicated in the pathogenesis of progressive renal diseases. In addition, the blockage of angiotensin II with either ACE inhibitor or an angiotensin type-I receptor antagonist has been found to prevent or delay the progression of renal injury associated with diabetes 5 and now these drugs are first-choice drugs for the treatment of diabetic subjects with hypertension. The genes encoding the renin-angiotensin system (RAS), such as angiotensin-converting enzyme (ACE), angiotensinogen (AGT) and angiotensin II receptor type 1 (AGTR1), have been reported to be the most probable candidate genes for diabetic nephropathy. As there is no data available for AGTR1 polymorphism and DN in the north Indian T2DM, its out attempt to fill the scientific gap.
Fanconi Syndrome Due to ARVs in HIV-Infected Persons
HIV InfectionsFanconi Syndrome2 moreCross-sectional cohort study of participants with HIV with or without protocol-defined Fanconi syndrome (confirmed creatinine clearance [CLcr] decline and evidence of proximal tubulopathy).
Mapping of End Stage Renal Disease Genetic Susceptibility in African Americans by Admixture Linkage...
End Stage Renal Disease (ESRD)This study will identify which regions on the genes, and genes themselves, may account for an increased risk of end stage renal disease (ESRD), that is, near-total loss of kidney function, for people of African American descent. Researchers will use a technique called admixture linkage disequilibrium (MALD) to study genomes, genetic material, in about 2,500 participants from two existing studies and participants who will serve as controls. ESRD disproportionately affects African Americans, who constitute 29% of all ESRD patients in the Medicare ESRD program. The disease can result from a variety of diseases, with diabetes as the leading underlying cause (44% of cases) and hypertension as the second leading cause (26%). The proportion of ESRD cases caused by diabetes has increased dramatically. Patients age 18 and older who are African American, who have ESRD, and who are participants of the FIND and CHOICE studies may be eligible for this study. FIND, or Family Investigation of Diabetes and Nephropathy, involves a multicenter study to identify susceptibility genes, that is, those with a risk, for diabetic and other forms of kidney disease. CHOICE, or Choices for Healthy Outcomes in Caring for ESRD patients is an ongoing study that identifies risk factors for cardiovascular outcomes in ESRD patients. The principle of mapping by MALD involves genetic variations that exist across populations. When mixing occurs between populations having different (heterogeneous) genes, the admixed offspring inherits chromosomes of distinct ancestry. However, over generations of mating, and recombination over several generations, originally large blocks of DNA from African ancestry have become part of smaller segments throughout the chromosome. The study will focus on risk alleles, that is, alternative forms of genes that carry a disease risk. Risk alleles are closely related to nearby ancestral gene markers found in a person. Patients will undergo a collection of blood and urine for genetic testing. Researchers are conducting separate analyses in this study. Case-control analysis of ESRD will consist of 1,150 participants from FIND and 250 from CHOICE. There will also be 750 control participants from FIND. For the case-control analysis of diabetic ESRD, there will be about 750 participants from FIND, 125 from CHOICE, and 750 controls from FIND. Finally, there is the quantitative trait analysis, which looks at the phenotype-meaning visible characteristics produced by the interaction of a person's genetic makeup with the environment. That analysis will involve 350 patients with diabetic nephropathy but not ESRD and 750 controls from FIND.
The Interrelation of the Vasculature, Endothelium, Bone Metabolism and Uremic Toxins in Peritoneal...
Chronic Kidney DiseaseDespite major advances in the treatment of chronic kidney disease, the age and sex matched mortality far exceeds that of the normal population. As in the normal population, the majority of deaths are related to cardiovascular disease. Mounting data point to the lethal synergy between chronic kidney disease and cardiovascular disease. This relation is present from early stages of chronic kidney disease on. Several uremic toxins have been demonstrated to play an important role in kidney disease related endothelial dysfunction. In peritoneal dialysis patients, data on the relation between uremic toxins, endothelial dysfunction and microparticles are lacking. The investigators hypothesize that endothelial dysfunction and uremic toxins are interrelated in peritoneal dialysis patients