Detection of Fabry Disease in Chronic Renal Failure Patients in Area Provence - Alpes - Côte d'Azur...
Fabry DiseaseFabry disease is a rare genetic disease characterized by an enzyme deficiency, called alpha-galactosidase A, which normally breaks down a lipid, is missing or does not function properly. As a result, the lipid accumulates in the body, this leads to multisystem impairment, including progressive renal failure. Several studies have focused on the detection of this disease in end-stage renal failure patients, transplant or hemodialysis. This study aims to diagnose the Fabry patients earlier, among men aged 18-60 years with a glomerular filtration rate estimated by MDRD between 60 and 15 ml/min/1, 73m2, or between 90 and 60 ml/min/1, 73m2 in association with proteinuria greater than 0.3 g / g or creatinine level greater than 0,5 g/l. This screening will be conducted by a blood test to measure the level of alpha-galactosidase A activity by micromethod from samples taken from blood spots on filter paper. If this assay was positive, confirmation of diagnosis of Fabry disease will done the standard method: macrodosage of leukocytic alpha-galactosidase A activity. This multicenter prospective study, openly contacted in medical practice, with patient follow-up corresponding to the management of renal insufficiency, will be offered to all departments of nephrology and dialysis for adults in the Provence - Alpes - Côte d'Azur. The objective of this study is to assess the prevalence of Fabry disease in the target population and to identify previously undiagnosed patients, enabling them to benefit from appropriate management of their disease, including whether need enzyme replacement therapy.
Study to Monitor the Incidence of Pure Red Cell Aplasia (PRCA) and/or Antibodies to Erythropoietin...
Red-Cell AplasiaPure1 moreThe purpose of this study is to assess the incidence of pure red cell aplasia (PRCA [suppression of erythropoiesis with little or no abnormality of leukocyte or platelet production]) among participants with chronic renal failure (CRF), who were receiving treatment with epoetin alfa or other exogenous recombinant erythropoietin therapies.
T-Wave Alternans in Dialysis Patients
Sudden Cardiac DeathEnd Stage Renal DiseaseSudden cardiac death due to arrhythmia is the leading cause of death in end-stage renal disease (ESRD) patients treated with hemodialysis (HD). As it is anticipated that the number of individuals with ESRD will exceed 1.2 million in the next 20 years, sudden death in this population has enormous public health impact. Research has shown that arrhythmic events are temporally associated with longer periods between HD with a three-fold risk of events in the 12 hours preceding the longest inter-dialysis interval. The exact cause of these findings is unknown.
Oxidative Stress and Hemodialysis Access Failure
End Stage Renal DiseaseHemodialysisComplications of hemodialysis access are the most frequent single reason for hospitalization among patients with End Stage Renal Disease (ESRD). Uremia, and particularly uremia in patients with diabetes, is a state of increased oxidative stress. The central hypothesis to be tested by this project is that oxidative stress is a major (and modifiable) trigger for vascular access complications. We hope to slow or reduce rates of stenosis, thrombosis and access complications by giving Vitamin E supplementation to patients being treated by hemodialysis.
Serum Uremic Toxins and Histological Findings of the Blood Vessels in Dialysis Patients
Chronic Renal FailurePatients treated by chronic renal replacement therapy are exposed to cardiovascular problems and suffer from an accelerated and sever atherosclerosis. Classical risk factors for atherosclerosis and cardiovascular diseases (CVD) do not explain the full risk of CVD in the dialysis patients. Additional risk factors are therefore likely to exist. The uremic syndrome is attributed to the progressive retention of a large number of compounds, which under normal conditions are excreted by the healthy kidneys. Uremic toxins such are parathormone (PTH), vitamin D and phosphates, cause development of renal osteodystrophy (ROD), i.e. disordered calcium and phosphate metabolism. Both conditions of hyperparathyroid and adynamic bone disease (ABD) lead to an elevated calcium x phosphate product and increased vascular calcification, which might occur in intimal and medial layer of the vessel wall. It is important to consider these processes separately, as the vascular consequences (occlusion with atheromatosis and vascular stiffening through medial calcification) are different. Moreover, the difference between uremic and non-uremic intimal plaque is not the size but its composition, with markedly increased calcium content. Hence, these observations have an important socio-economic impact because of the increased cardiovascular morbidity and mortality. The investigators hypothesized that uremic toxins in dialysis patients influence directly and/or indirectly the development of atherosclerosis, vascular calcifications and CVD.
T Wave Alternans in Hemodialysis
End Stage Renal DiseaseCoronary Heart Disease1 moreThe purpose of this study is to determine if the hemodialysis procedure changes the risk for cardiac arrest in patients.
Arterial Stiffness, Wave Reflections and Renal Failure
Chronic Renal FailureArterial Stiffness1 moreCardiovascular risk is high in patients with renal failure. Cross-sectional studies have indicated a relationship between arterial stiffness and renal function. However, there are no prospective longitudinal studies in the literature. In dialysis patients, arterial stiffness as well as wave reflections, predict mortality. However, there are no data on patients with mild-to-moderate renal impairment available. Therefore, we designed a study to test the hypothesis that: a) measures of arterial stiffness and wave reflections predict the progression of renal impairment in patients with mild-to-moderate renal failure; and b) measures of arterial stiffness and wave reflections predict cardiovascular events in patients with mild-to-moderate renal failure
Patient-Provider Trust Among Individuals With End-Stage Kidney Disease
Kidney FailureChronicThis study will examine communication and trust between patients in the kidney transplant process and their health care providers. It will assess patients' perception of trust in their physician and nurse coordinator; determine the patients' level of trust in the areas of competence, compassion, control, communication, and confidentiality; and determine how the trust level varies as patients progress in the transplant process. Patients 18 years of age and older who are in various stages of the kidney transplant process at Walter Reed Army Medical Center and the NIH Clinical Center may be eligible for this study. Candidates include individuals who: are on dialysis but not on a transplant waiting list are on the organ waiting list and are also on dialysis are on the organ waiting list but are not on dialysis have had a kidney transplant within the last year. Participants will be interviewed by someone who is not their direct health care provider about the doctor/patient, primary provider/patient, or nurse/patient relationship, their health history, medical condition, and ideas about their care. With the patient's permission, parts of the interview will be tape-recorded. The interview will take about 30 to 40 minutes.
Laparoscopic Donor Nephrectomy Score, a New Scoring System for Preoperative Prediction of Difficulty...
Renal Failure ChronicSurgeryThe goal of this multicenter observational study is to develope and validate a new scoring system for preoperative prediction of difficulty of Laparoscopic Donor Nephrectomy. Healthy living kidney donors will be enrolled. The main questions it aims to answer are: 1) can the investigators predict difficulty of the operation ? 2) Can the investigators score difficulty based on this new scoring system? Difficulty of LDN will be graded by the operating surgeon at the end of the operation based on intraoperative predefined parameters. All operations will be blindly scored by the operating surgeon, while one radiologist will blindly review all preoperative CT scans. LAPDOCTOR scores will be compared with the degrees of difficulty assigned by the operating surgeon to investigate the match rate.
Estimate for Dietary Intakes and Hemodialysis Patients
Nutrition DisordersDialysis2 moreThe aim of this clinical research is to evaluate the relevance of using the EPA slide to estimate dietary intakes in dialysis patients. The obtained results will be compared with the reference technique validated by the HAS: food intake over 3 days. The aim is also to improve the global management of dialysis patients and improve their quality of life. The aim is to evaluate a quick and easy-to-use tool whose use has been demonstrated in hospitals but for which no study has been carried out in an ambulatory hospitalization context.