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The lived experience of adolescents with X-linked hypophosphataemia treated with burosumab at end of skeletal growth: a mixed-methods analysis X-linked hypophosphataemia is a rare, genetic, lifelong disorder caused by phosphate-regulating endopeptidase homologue X-linked pathogenic variants and, if left untreated, is associated with a progre...

The lived experience of adolescents with X-linked hypophosphataemia treated with burosumab at end of skeletal growth: a mixed-methods analysis journals.plos.org/plosone/arti... #hvhebron #nefroped [Text complet] @plosone.org

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The European distal renal tubular acidosis registry: a five-year analysis academic.oup.com/ndt/advance-... #hvhebron #nefroped @ndt-era.bsky.social

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Adolescents’ experience of living with X-linked hypophosphataemia (XLH): a mixed-methods analysis of those who continued and discontinued burosumab treatment after end of skeletal growth - Orphanet Jo... Orphanet Journal of Rare Diseases - X-linked hypophosphataemia (XLH) is a rare, genetic, phosphate-wasting disorder caused by excess fibroblast growth factor 23 (FGF23). Children experience...

Adolescents' experience of living with X-linked hypophosphataemia (XLH): a mixed-methods analysis of those who continued and discontinued burosumab treatment after end of skeletal growth.
Saraff V, Arango-Sanc link.springer.com/article/10.1... #hvhebron #nefroped [Text complet]

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Antimeningococcal Protection in Patients Receiving Terminal Complement Inhibitors C5 inhibitor (C5i) therapy markedly increases susceptibility to invasive meningococcal disease (IMD) by blocking the terminal complement pathway essen…

Antimeningococcal Protection in Patients Receiving Terminal Complement Inhibitors www.sciencedirect.com/science/arti... #hvhebron #nefroped [Text complet]

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Exhausted/Senescent CD4+ T cells as Predictors of Vaccine Failure and Severe COVID-19 in Solid Organ Transplant Recipients Despite booster vaccinations, solid organ transplants (SOT) develop suboptimal immunity and remain at risk of severe COVID-19. Chronic immunosuppressi…

Exhausted/Senescent CD4+ T cells as Predictors of Vaccine Failure and Severe COVID-19 in Solid Organ Transplant Recipients www.sciencedirect.com/science/arti... #hvhebron #nefro #tras #micro #hepato #chbpt #malinf #nefroped #mprev

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Type, location and zygosity of KCNJ16 mutations may determine the clinical severity of Hypokalemic Tubulopathy and Deafness (HkTD) The pivotal role of Kir5.1 ( KCNJ16 ) in maintaining electrolyte and acid-base homeostasis was demonstrated by animal studies and highlighted by the identification of disease-causing mutations in KCNJ...

Type, location and zygosity of KCNJ16 mutations may determine the clinical severity of Hypokalemic Tubulopathy and Deafness (HkTD) www.medrxiv.org/content/10.6... #hvhebron #nefroped [Preprint] @medrxivpreprint.bsky.social

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A Phase III study of perioperative dostarlimab in patients with dMMR/MSI-H resectable colon cancer: AZUR-2 study design The role of perioperative immunotherapy as a chemotherapy-free option for patients with resectable mismatch repair-deficient/microsatellite instability-high (dMMR/MSI-H) colon cancer is evolving, w...

A Phase III study of perioperative dostarlimab in patients with dMMR/MSI-H resectable colon cancer: AZUR-2 study design www.tandfonline.com/doi/full/10.... #hvhebron #nefroped [Text complet]

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Vascular access for hemodialysis and catheter-related bloodstream infections: a survey on preventive measures and treatment strategies by the EPDWG and ESPN Dialysis Working Group link.springer.com/article/10.1... #hvhebron #nefroped [Text complet]

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Plain language summary of the first findings from the International X-Linked Hypophosphatemia (XLH) Registry Published in Future Rare Diseases (Vol. 5, No. 1, 2025)

Plain language summary of the first findings from the International X-Linked Hypophosphatemia (XLH) Registry www.tandfonline.com/doi/abs/10.1... #hvhebron #nefroped [Text complet]

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Trial of Pegcetacoplan in C3 Glomerulopathy and Immune-Complex MPGN | NEJM C3 glomerulopathy and primary immune-complex membranoproliferative glomerulonephritis (MPGN) generally result in glomerular C3 deposition and irreversible kidney damage. The efficacy and safety of ...

Trial of Pegcetacoplan in C3 Glomerulopathy and Immune-Complex MPGN www.nejm.org/doi/10.1056/... #hvhebron #nefroped

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Real-world evidence from the Global aHUS Registry confirms the safety and effectiveness of switching to ravulizumab from eculizumab in patients with aHUS: a plain language summary Published in Future Rare Diseases (Vol. 5, No. 1, 2025)

Real-world evidence from the Global aHUS Registry confirms the safety and effectiveness of switching to ravulizumab from eculizumab in patients with aHUS: a plain language summary www.tandfonline.com/doi/abs/10.1... #hvhebron #nefroped [Text complet]

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Incidence and risk factors for portal vein complications after pediatric liver transplantation: A retrospective cohort analysis from the PORTAL registry journals.lww.com/lt/abstract/... #hvhebron #nefroped

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Response to commentary on “Ultra-rare severe kidney dysplasia mimicking salt-wasting tubulopathy associated with TFCP2L1 gene variants” - Pediatric Nephrology Pediatric Nephrology -

Response to commentary on "Ultra-rare severe kidney dysplasia mimicking salt-wasting tubulopathy associated with TFCP2L1 gene variants" link.springer.com/article/10.1... #hvhebron #nefroped [Text complet]

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Clinical Characteristics, Symptoms, and Long-Term Outcomes in Gitelman Syndrome Gitelman syndrome (GS) is a rare inherited salt-losing tubulopathy with limited clinical data.Surveys were conducted with GS physicians in Europe and …

Clinical Characteristics, Symptoms, and Long-Term Outcomes in Gitelman Syndrome www.sciencedirect.com/science/arti... #hvhebron #nefroped [Text complet]

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VALIANT: Randomized, multicenter, double-blind, placebo-controlled, phase 3 trial of pegcetacoplan for patients with native or post-transplant recurrent C3G or primary (idiopathic) IC-MPGN C3 glomerulopathy (C3G) and primary immune complex-membranoproliferative glomerulonephritis (IC-MPGN) are complement-mediated diseases driven by C3 dy…

VALIANT: Randomized, multicenter, double-blind, placebo-controlled, phase 3 trial of pegcetacoplan for patients with native or post-transplant recurrent C3G or primary (idiopathic) IC-MPGN www.sciencedirect.com/science/arti... #hvhebron #nefroped [Text complet]

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Targeted treatment with pegcetacoplan for adolescents with C3G or primary (idiopathic) IC-MPGN in the VALIANT phase 3 trial C3 glomerulopathy (C3G) and primary (idiopathic) immune complex membranoproliferative glomerulonephritis (IC-MPGN) are rare diseases where uncontrolle…

Targeted treatment with pegcetacoplan for adolescents with C3G or primary (idiopathic) IC-MPGN in the VALIANT phase 3 trial www.sciencedirect.com/science/arti... #hvhebron #nefroped [Text complet]

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THE CHALLENGE OF THIRD AND SUBSEQUENTS KIDNEY TRANSPLANTION IN CHILDREN Third and subsequent kidney transplants (TASKT) remain a surgical and immunological challenge, allegedly associated to a higher incidence of surgical …

THE CHALLENGE OF THIRD AND SUBSEQUENTS KIDNEY TRANSPLANTION IN CHILDREN www.sciencedirect.com/science/arti... #hvhebron #cirped #nefroped

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Management of hepatic artery thrombosis and stenosis after... : Liver Transplantation was sent to 36 international pLT centers. The survey included 36 questions covering center experience, screening protocols, diagnostic criteria, preventive management, post-procedural care, and follow...

Management of hepatic artery thrombosis and stenosis after pediatric liver transplantation: Variability and agreement in management practices journals.lww.com/lt/abstract/... #hvhebron #nefroped

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PHYOX3: Nedosiran Long-Term Safety and Efficacy in Patients With Primary Hyperoxaluria Type 1 Primary hyperoxaluria type 1 (PH1) is a rare genetic disease characterized by oxalate overproduction in the liver, leading to hyperoxaluria, calcium oxalate stones, nephrocalcinosis, progressive chron...

PHYOX3: Nedosiran Long-Term Safety and Efficacy in Patients With Primary Hyperoxaluria Type 1 www.kireports.org/article/S246... #hvhebron #nefroped [Text complet]

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Insights from ADPedKD, ERKReg and RaDaR registries provide a multi-national perspective on the presentation of childhood autosomal dominant polycystic kidney disease in high- and middle-income countri... Data on the presentation of Autosomal Dominant Polycystic Kidney Disease (ADPKD) in children has been based on small/regional cohorts and practices re…

Insights from ADPedKD, ERKReg and RaDaR registries provide a multi-national perspective on the presentation of childhood autosomal dominant polycystic kidney disease in high- and middle-income countries www.sciencedirect.com/science/arti... #hvhebron #nefroped

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Predictors of hyperkalemia in pediatric patients on dialysis: international prospective observational study - Pediatric Nephrology Background Hyperkalemia is an important issue in kidney failure. The aim of the study was to investigate the predictors of hyperkalemia in children receiving maintenance dialysis. Methods This was an ...

Predictors of hyperkalemia in pediatric patients on dialysis: international prospective observational study link.springer.com/article/10.1... #hvhebron #nefroped

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Response to comment: Modified J-shaped incision for combined pediatric liver-kidney transplants (CLKT): Focusing on the urological outcomes www.sciencedirect.com/science/arti... #hvhebron #cirped #nefroped

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Access to kidney transplantation and re-transplantation from childhood to adulthood: long-term data from the ERA Registry academic.oup.com/ndt/advance-... #hvhebron #nefroped [Text complet]

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Modified J-shaped incision for combined pediatric liver-kidney transplants (CLKT): Focusing on the urological outcomes Combined liver-kidney transplants (CLKT) are performed through two separate incisions. Our aim was to describe our initial experience using a modified J-shaped incision to perform a single-access CLKT...

Modified J-shaped incision for combined pediatric liver-kidney transplants (CLKT): Focusing on the urological outcomes www.jpurol.com/article/S147... #hvhebron #cirped #nefroped

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Hiperplasia suprarrenal congénita clásica por deficiencia de 11 beta-hidroxilasa: características clínicas, bioquímicas, moleculares y evolución a largo plazo 11β-hydroxylase (11β-OH) deficiency is the second most frequent cause of classic congenital adrenal hyperplasia (CAH) (5%-8% of cases). Clinically, it…

Hiperplasia suprarrenal congénita clásica por deficiencia de 11 beta-hidroxilasa: características clínicas, bioquímicas, moleculares y evolución a largo plazo www.sciencedirect.com/science/arti... #hvhebron #endoped #gen #nefroped [Text complet]

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Nedosiran in pediatric patients with PH1 and relatively preserved kidney function, a phase 2 study (PHYOX8) - Pediatric Nephrology Background Primary hyperoxaluria type 1 (PH1) is an autosomal recessive disorder with dysregulated glyoxylate metabolism in the liver. Oxalate over-production leads to renal stones, progressive kidney...

Nedosiran in pediatric patients with PH1 and relatively preserved kidney function, a phase 2 study (PHYOX8) link.springer.com/article/10.1... #hvhebron #nefroped [Text complet]

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Patient journey in cystinosis: focus on non-adherence and disease management - Drugs in Context This study assesses the impact of cystinosis and treatmentassociated challenges on therapeutic adherence to detect potential leverages of change and propose lines of actions based on patient-reported ...

Patient journey in #cystinosis: focus on non-adherence and disease management www.drugsincontext.com/patient-jour... #hvhebron #nefroped [Text complet]

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Clinical Practice Recommendations on Kidney Management in Methylmalonic Acidemia: an Expert Consensus Statement From ERKNet and MetabERN Methylmalonic acidemias (MMAs) are rare inherited metabolic diseases with multiorgan involvement. Chronic kidney disease (CKD) is a common complicatio…

Clinical Practice Recommendations on Kidney Management in #Methylmalonic #Acidemia: an Expert Consensus Statement From ERKNet and MetabERN www.sciencedirect.com/science/arti... #hvhebron #nefroped [Text complet]

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