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.
Prognostic Indicators as Provided by the EPIC ClearView
Coronary Artery DiseaseCongestive Heart Failure26 moreThe objective of this study is to determine whether the finger tip images captured by the EPIC ClearView device, when analyzed via the ClearView software, produce a Response Scale that characterizes trends consistent with known diagnoses identified by medical doctors. Specifically, the investigators hypothesize that the organ system involving any of a series of known active diagnoses will be identified in the EPIC ClearView Response Scale report with the intention of providing potential triage capabilities.
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.
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
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.
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.
The Learning Curve for Retroperitoneoscopic Donor Nephrectomy
Transplant;Failure,KidneyPurpose: The aim of the study is to identify a precise learning curve for pure retroperitoneoscopic donor nephrectomy (RDN). Methods: Data from 172 consecutive kidney donors who underwent pure RDN between January 2010 and July 2019 were prospectively collected and evaluated. CUSUM (cumulative sum) analysis was used for testing the operation time. Changepoints were determined by using the R program and BinSeg method. The cohort was divided into three groups. Group 1 refers to competence including the first 10 cases, group 2: 11- 48 cases as proficiency, and group 3: the subsequent 124 cases as expert level. Continuous variables were evaluated using one-way ANOVA, and categorical data were evaluated using the Chi-square test
Evaluation of Advanced US Tools in Assessing Allograft Complications
Renal FailureChronic Kidney Diseases4 moreThis study evaluates the role of advanced US technology in assessing renal transplants as screening tools such as 3D Ultrasound, Ultrasound SWE, and MFI besides current ultrasound conventional metheds.
Concordance Between the Foot-to-Apex Systolic Interval and the Auscultatory Method for Measurement...
Renal InsufficiencyThe investigators hypothesize that the Systolic Foot-to-Apex Time Interval (SFATI) method will be accurate for measurement of systolic blood pressure with marked arterial stiffness as seen in patients with severe renal impairment. Also that the presence of arterial calcifications only changes the agreement between the SFATI method and the reference method (auscultatory method) if the calcifications are very severe.
Influence of Perioperative Kidney Function on Postoperative Outcome
Renal InsufficiencyAcute Kidney InjuryThis study investigates the influence of perioperative changes in serum creatinine on hospital length of stay and mortality.