Cardiomyopathy in Steroid-resistant Nephrotic Syndrome: Impact of Focal Segmental Glomerulosclerosis...
Focal Segmental GlomerulosclerosisNephrotic Syndrome2 moreThe objective of this study is as follows: Perform genetic analysis to define the prevalence of each of the known gene mutations in an unselected cohort of patients with focal segmental glomerulosclerosis (FSGS) Perform a comprehensive assessment of cardiovascular status to determine the incidence of any cardiac abnormalities in patients with FSGS Determine if patients with mutations in specific proteins are more likely to have cardiovascular abnormalities Initiate long-term follow up in all patients to determine whether cardiac prognosis is related to any specific genetic abnormality
Inflammatory and Immune Profiling of Kidney Tissue Obtained From Patients With Newly Diagnosed Kidney...
ProteinuriaKidney Injury1 moreThis study will evaluate in patients with kidney disease, the role that certain inflammatory and immune mediators play in promoting kidney damage. The investigators hypothesize that certain mediators, (identified in the serum, urine and renal biopsy tissue), of patients with a variety of different renal disease states will provide information regarding their clinical course and that inflammatory and immune patterns in the serum and urine of patients with kidney disease may yield predictive diagnostic information in place of a renal biopsy. The ability to detect and quantify these mediators may lead to earlier detection and treatment of kidney disease in order to prevent kidney failure and the requirement for renal replacement. The study will evaluate serum, blood and urine collected over a one year period post kidney biopsy for the presence of inflammatory or immune mediators, which will be correlated with kidney pathology findings (gene signatures). These gene signatures will be compared to "normal" control specimens obtained from donor transplant kidneys or from normal kidney tissue obtained from patients who require their entire kidney removed for a tumor.
Latent Viral Infection of Lymphoid Cells in Idiopathic Nephrotic Syndrome
NEPHROSISLIPOIDThe primary purpose of the study is to evaluate the association of a latent infection of lymphoid cells during the first manifestation of steroid sensitive nephrite syndrome. The thirty nine units of general pediatrics and pediatric nephrite covering the parisian area will participate to the study. We speculate that hybridization of the genome, or a part of the genome, of a virus in lymphoid cells is responsible specific changes of genes expression, leading to the development of the disease.
Urinary Aquaporin 2 and Expression of the NPHS2 Gene in Adults Suffering From Nephrotic Syndrome...
Nephrotic SyndromeWe want to test the hypothesises that patients with nephrotic syndrome have a higher excretion of AQP2 in the urine,that they have a higher concentration of AVP,and a lower C-H2O.Everything will normalize, when the syndrome is in remission.Furthermore we want to test the hypothesis that the expression of mutations in the NPHS2-gene,that codes for podocin,will cause a lack off or a poorer response in the treatment of nephrotic syndrome
Renal Doppler in Pediatric Patients With Idiopathic Nephrotic Syndrome
Nephrotic SyndromeThe use of the renal resistive index in pediatric patient with idiopathic nephrotic syndrome to detect steroid resistance and to use it as a prognostic instrument of the progression of the disease.
Pharmacokinetics of Cyclosporin in Nephrotic Syndrome
Nephrotic SyndromeThe purpose of this study is to evaluate whether there are differences in the pharmacokinetics of cyclosporine in remission nephrotic syndrome compared to relapsed disease in children.
Factors of Steroid Dependency in Idiopathic Nephrotic Syndrome
Idiopathic Nephrotic SyndromeThe primary purpose of the study is to identify the factors of steroid dependency in childhood idiopathic nephrotic syndrome. The steroid dependency is defined by a relapse of nephrotic syndrome within the 3 weeks that follow the withdrawal of steroid therapy after the first manifestation. Different clinical and biological factors will be analyzed: age of first manifestation, delay of remission, ethnicity, and preceding viral infection, geolocalization in the Parisian area, genoprevalence of herpes viruses and polymorphisms in the genes involved in the response to steroid therapy.
Registry for Patients With Wilms' Tumor Suppressor Gene 1 (WT1) Mutation Associated Diseases
Denys-Drash SyndromeFrasier Syndrome2 moreThe Wilms' tumor suppressor gene 1 (WT1) encodes for a transcription factor which plays an important role during urogenital development. Patients carrying a WT1 germline mutation show symptoms like proteinuria, Wilms tumors, genital malformations and kidney failure. Milder variants are possible and classification is not always possible. In this registry we are collecting detailed clinical data of affected individuals to establish genotype-phenotype correlations with the greater goal to optimize patient care.
Angiotensin Converting Enzyme Gene Polymorphism in Children With Idiopathic Nephrotic Syndrome
Nephrotic SyndromeAims This study was conducted to examine the association between the ACE insertion/deletion (I/D) genotype distribution in children with idiopathic nephrotic syndrome and the response to steroid therapy. Patients and Methods The patients with idiopathic nephrotic syndrome were divided into 2 groups according to their clinical response to steroid: SS group including infrequent and frequent relapsers and non-SS group including steroid resistant (SR) and steroid dependent (SD) patients. Children without previous renal diseases and negative proteinuria were enrolled as control group in genetic study. The genotypes for ACE gene I/D polymorphism including DD, ID and II were analyzed by the newly developed automatic denaturing high performance liquid chromatography system (DHPLC).
Assessment of the Educational Experiences for Patients Newly Diagnosed With Nephrotic Syndrome
Nephrotic SyndromeThe purpose of this study is to learn about patient, caregiver and healthcare worker perspectives on educating patients with newly-diagnosed Nephrotic Syndrome. All patients enrolled in the Contact Registry with Nephrotic Syndrome will be invited via email to participate in this study.