A5054538151- Renal Diseases and Glomerulopathies
- Biomedical Research and Pathophysiology
- Neonatal Health and Biochemistry
- Amino Acid Enzymes and Metabolism
- Autoimmune Bullous Skin Diseases
- Ion Transport and Channel Regulation
- Genetic and Kidney Cyst Diseases
- Renal and related cancers
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Parathyroid Disorders and Treatments
- Metabolism and Genetic Disorders
- Platelet Disorders and Treatments
- Complement system in diseases
- Pediatric Urology and Nephrology Studies
- Folate and B Vitamins Research
- Coenzyme Q10 studies and effects
- Systemic Lupus Erythematosus Research
- Chronic Kidney Disease and Diabetes
- Erythrocyte Function and Pathophysiology
- Mitochondrial Function and Pathology
- Renal function and acid-base balance
- Electrolyte and hormonal disorders
- Vasculitis and related conditions
- Chronic Lymphocytic Leukemia Research
- Systemic Sclerosis and Related Diseases
Bambino Gesù Children's Hospital
2016-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2015-2025
Inserm
2023-2024
University Hospital Heidelberg
2019-2024
Heidelberg University
2019-2024
University Medical Center Hamburg-Eppendorf
2024
Johns Hopkins University
2024
Sorbonne Université
2024
Aarhus University
2024
University Medical Center
2024
Primary coenzyme Q(10) (CoQ(10)) deficiency includes a group of rare autosomal recessive disorders primarily characterized by neurological and muscular symptoms. Rarely, glomerular involvement has been reported. The COQ2 gene encodes the para-hydroxybenzoate-polyprenyl-transferase enzyme CoQ(10) synthesis pathway. We identified two patients with early-onset lesions that harbored mutations in gene. first patient presented steroid-resistant nephrotic syndrome at age 18 months as result...
Background and objectives Steroid-resistant nephrotic syndrome is a rare kidney disease involving either immune-mediated or genetic alterations of podocyte structure function. The nature, heterogeneity, slow evolution the disorder are major obstacles to systematic genotype-phenotype, intervention, outcome studies, hampering development evidence-based diagnostic therapeutic concepts. To overcome these limitations, PodoNet Consortium has created an international registry for congenital...
The outcome of steroid-dependent or frequently relapsing nephrotic syndrome minimal change disease (MCD), mesangial proliferative GN (MesGN), FSGS may be poor and with major treatment toxicity. This academic, multicenter, off-on trial (ClinicalTrials.gov #NCT00981838) primarily evaluated the effects rituximab therapy followed by immunosuppression withdrawal on recurrence in 10 children 20 adults MCD/MesGN (n=22) who had suffered ≥2 recurrences over previous year were steroid-induced...
Autosomal dominant polycystic kidney disease (ADPKD) is the fourth most common renal requiring replacement therapy (RRT). Still, there are few epidemiological data on prevalence of, and survival RRT for ADPKD. This study used from ERA-EDTA Registry in 12 European countries with 208 million inhabitants. We studied four 5-year periods (1991–2010). Survival analysis was performed by Kaplan–Meier method Cox proportional hazards regression. From first to last period, of ADPKD increased 56.8 91.1...
Cystinosis is caused by mutations in the CTNS gene (17p13.2), which encodes for a lysosomal cystine/proton symporter termed cystinosin. It most common cause of inherited renal Fanconi syndrome young children. Because its rarity, diagnosis and specific treatment cystinosis are frequently delayed, has significant impact on overall prognosis. In this document, we have summarized expert opinions several aspects disease to improve knowledge provide guidance treatment.
We investigated the value of genetic, histopathologic, and early treatment response information in prognosing long-term renal outcome children with primary steroid-resistant nephrotic syndrome. From PodoNet Registry, we obtained longitudinal clinical for 1354 patients (disease onset at >3 months <20 years age): 612 had documented responsiveness to intensified immunosuppression (IIS), 1155 kidney biopsy results, 212 an established genetic diagnosis. assessed risk factors ESRD using...
The pathogenesis of nephrotic syndrome is unclear. However, the efficacy rituximab, a B cell–depleting antibody, in suggests pathogenic role cells. In this retrospective study, we determined by flow cytometry levels and T cell subpopulations before after rituximab infusion 28 pediatric patients with frequently relapsing or steroid–dependent syndrome. At baseline, had lower median percentages transitional mature cells than age–matched healthy controls ( P <0.001). Rituximab induced full...
Membranous nephropathy results from subepithelial antigen-antibody complex deposition along the glomerular basement membrane. Although PLA2R, THSD7A, and NELL-1 account for a majority (about 80%) of target antigens, antigen in remaining cases is not known. Using laser microdissection PLA2R-negative glomeruli patients with membranous followed by mass spectrometry we identified unique protein, Semaphorin 3B, three cases. Mass failed to detect Semaphorin-3B 23 PLA2R-associated 88 controls. 3B...
Minimal change disease and primary focal segmental glomerulosclerosis in adults, along with idiopathic nephrotic syndrome children, are immune-mediated podocytopathies that lead to syndrome. Autoantibodies targeting nephrin have been found patients minimal disease, but their clinical pathophysiological roles unclear.
Bone marrow (BM)-derived mesenchymal stromal cells (MSCs), endowed with immunosuppressive and anti-inflammatory properties, represent a promising tool in immunoregulatory regenerative cell therapy. Clarifying the interactions between MSCs B-lymphocytes may be crucial for designing innovative MSC-based strategies conditions which B play role, including systemic lupus erythematosus (SLE) rejection of kidney transplantation. In this study, we show that, both healthy subjects patients, vitro...
Defective primary ciliogenesis or cilium stability forms the basis of human ciliopathies, including Joubert syndrome (JS), with defective cerebellar vermis development. We performed a high-content genome-wide small interfering RNA (siRNA) screen to identify genes regulating as candidates for JS. analyzed results supervised-learning approach, using SYSCILIA gold standard, Cildb3.0, centriole siRNA and GTex project, identifying 591 likely candidates. Intersection this data whole exome from 145...