A nonsense mutation in the Tripartite motif containing 8 (TRIM8) gene, mimicking collagenopathy.

Tripartite motif-containing 8 (TRIM8) gene mutations are associated with autosomal dominantly inherited neurorenal syndrome. The kidney manifestations range from nephrotic range proteinuria to nephrotic syndrome and kidney failure. The histopathology has been focal segmental glomerulosclerosis (FSGS) in all reported cases.

Favorable outcome in children with dense deposit disease with the use of long-term mycophenolate mofetil and high-dose alternate-day steroids.

Background: This study aimed to evaluate the response to therapy and outcome with long-term daily mycophenolate mofetil (MMF) and high-dose alternate-day steroids (HADS) in children with dense deposit disease (DDD).

Methods: Children with DDD who received long-term MMF (1200 mg/m/day) and HADS (1.5-2 mg/kg AD) with slow tapering were retrospectively evaluated for their clinico-pathological presentation, response to therapy (complete, partial, no remission) and outcome (patient and renal survival).

Pilot Trial of Hydroxychloroquine as Add-On Therapy in Patients With Membranous Nephropathy.

Introduction: Kidney Disease Improving Global Outcomes guidelines indicate that glucocorticoids and immunosuppressants comprise the first therapeutic regimens after 4 to 6 months of treatment for high-risk primary membranous nephropathy (PMN). However, some patients cannot achieve complete or partial remission at 6 months. This study aimed to evaluate the efficacy of traditional immunotherapy combined with hydroxychloroquine (HCQ), a well-known immune regulator, in patients with PMN.

Steroid-Resistant Nephrotic Syndrome Is Associated With a Unique Genetic Profile in a Highly Admixed Pediatric Population.

Introduction: The profile of genetic and nongenetic factors associated with progression to kidney failure (KF) in steroid-resistant nephrotic syndrome (SRNS) is largely unknown in admixed populations.

Methods: A total of 101 pediatric patients with primary SRNS were genetically assessed targeting Mendelian causes and status with a 62-NS-gene panel or whole exome sequencing, as well as genetic ancestry. Variant pathogenicity was evaluated using the American College Medical of Genetics and Genomics (ACMG) criteria.

Urine Protein-to-Creatinine Ratio Remains Informative Despite Nonsteady State Serum Creatinine During Acute Kidney Injury.

Introduction: Experts have cautioned that assessment of proteinuria using urine protein-to-creatinine ratios (UPCRs) are not valid during acute kidney injury (AKI) because reduced urine creatinine in the denominator may artificially inflate the ratio. However, there is little empiric data assessing this theoretical concern.

Methods: Here, we retrospectively examined changes in UPCRs measured during episodes of severe AKI and assessed whether the magnitude and direction of these changes associate with how the serum creatinine level is changing at the time of UPCR collection.

Renal survival and treatment of adult patients with Primary Focal Segmental glomerulosclerosis: A historical cohort study of the National Greek Registry.

Background/objective: Primary Focal and Segmental glomerulosclerosis (FSGS) is one of the most common causes of idiopathic nephrotic syndrome. Our aim was to describe a large cohort of patients with primary FSGS, identify risk factors associated with worse renal survival and assess the impact of different immunosuppressive regiments on renal survival.

Methods: This was a historical cohort study of adults who were diagnosed with primary FSGS from March 26, 1982, to September 16, 2020.

Tailored management strategies for IgA nephropathy based on clinical presentations.

The treatment landscape for IgA nephropathy (IgAN) is rapidly evolving with the introduction of novel therapies targeting diverse disease pathways. Some have already been approved in different countries, while others are under investigation in randomized controlled trials (RCTs) with encouraging results. However, almost all performed RCTs have included only patients with refractory non-nephrotic proteinuria and preserved renal function.

Extended versus standard corticosteroid treatment in primary nephrotic syndrome onset.

Introduction. The standard treatment for the onset of primary nephrotic syndrome (PNS) consists of 8 weeks of prednisone. Alternatively, it was postulated that extending treatment to 12 weeks is associated with fewer relapses.

Parvovirus B19-related membranoproliferative glomerulonephritis presenting with positive glomerular staining for nephritis-associated plasmin receptor: a case report and review of the literature.

Several cases of glomerulonephritis occurring after infection with human parvovirus B19 (PVB19) have been reported. However, the pathogenesis and clinicopathological features of PVB19-related glomerulonephritis remain elusive. We describe the case of a 34 year-old woman who showed nephrotic syndrome and microscopic hematuria 10 days after PVB19 infection.

Dyes-encapsulated metal-organic cage as fluorescence sensor array for the auxiliary differential diagnosis of MCD and FSGS in early renal disorders.

Both minimal change disease (MCD) and focal segmental glomerular sclerosis (FSGS) are the pathological types of primary nephrotic syndrome (PNS) and cannot be readily distinguished owing to their highly similar clinical presentations. Currently, methods for clinical MCD and FSGS diagnosis still rely on invasive renal biopsy which impede rapid and accurate diagnosis for timely treatment management. In this study, a novel diagnostic strategy by introducing the dyes with spironolactone structure into the metal-organic cage to construct three dye@MOCs composites has been developed and employed as fluorescence sensor array for assisting in the auxiliary differential diagnosis of MCD and FSGS based on the distinguishable biothiols in urine.

Prediction Model and Decision Analysis for Early Recognition of SDNS/FRNS in Children.

Purpose: This study identified factors that identification of progression-predicting utility from steroid-sensitive nephrotic syndrome(SSNS) to steroid-dependent or frequently relapsing nephrotic syndrome (SDNS/FRNS) in patients and developed a corresponding predictive model.

Patients And Methods: This retrospective study analyzed clinical data from 756 patients aged 1 to 18 years, diagnosed with SSNS, who received treatment at the Department of Nephrology, Children's Hospital of Chongqing Medical University, between November 2007 and May 2023. We developed a shrinkage and selection operator (LASSO) - logistic regression model, which was visualized using a nomogram.

Nephrotic syndrome induces the upregulation of cell proliferation-related genes in tubular cells in mice.

Background: Massive proteinuria, dyslipidemia, and hypoalbuminemia induced by nephrotic syndrome (NS) secondarily affect tubular cells. We conducted an RNA sequencing (RNA-seq) analysis using a mouse model of focal segmental glomerulosclerosis to clarify the impact of NS on tubular cells.

Methods: We used transgenic mice expressing hCD25 in podocytes (Nep25) to induce NS by injecting human CD25-specific immunotoxin (LMB2) at a dose of 0.

Adult-onset female focal segmental glomerulosclerosis with nephrotic syndrome caused by a variant: a case report.

We report the case of a 49-year-old Chinese woman with nephrotic syndrome, characterized by normal kidney function but poor response to hormonal and immunosuppressive therapy, indicative of steroid-resistant nephrotic syndrome. Through renal biopsy, the patient was diagnosed as havingfocal segmental glomerulosclerosis (perihilar type), and subsequent whole-exome sequencing identified a pathogenic frameshift variant concerning the TBC domain of the gene. This patient represents the first late-onset Chinese female who was found to carry a novel, pathogenic variant in the gene .

The Pathogenesis of Nephrotic Syndrome: A Perspective from B Cells.

Background: Nephrotic syndrome is a special type of chronic kidney disease, the specific pathogenesis of which remains unclear. An increasing number of studies have suggested that B cells play an important role in the pathogenesis of nephrotic syndrome.

Summary: Idiopathic nephrotic syndrome is a common kidney disease in children.

Efficacy and safety of nine immunosuppressive agents for primary focal segmental glomerulosclerosis in adults: a pairwise and network meta-analysis.

Background: Immunosuppressants are widely used as the preferred treatment for primary focal segmental glomerulosclerosis (pFSGS). Nevertheless, controversies persist regarding the effectiveness and side effects of different immunosuppressive medications.

Methods: From July 2023 until June 2024, we systematically searched PubMed, Cochrane Library, Web of Science, clinicalrials.

A Case Report of a Patient with COQ8B Nephropathy Manifesting Atypical Renal Pathological Changes.

Background: COQ8B nephropathy is a hereditary mitochondrial kidney disease. Most cases present with steroidresistant nephrotic syndrome and focal segmental glomerulosclerosis, whereas this patient exhibited asymptomatic isolated proteinuria and mild renal histopathology.

Methods: Appropriate laboratory tests, abdominal ultrasonography, renal biopsy, and whole exome sequencing were performed to explore the cause of the disease.

Human albumin infusion and risk of acute kidney injury in adults with nephrotic syndrome due to minimal change disease: A single-center retrospective study.

Background: The use of human albumin in patients with minimal change disease (MCD) remains controversial. The aim of the current study was to assess whether infusion of human albumin increased the risk of acute kidney injury (AKI) in adult patients with MCD.

Materials And Methods: Adult patients who underwent renal biopsy for the diagnosis of MCD at the center between 2017 and 2022 were screened.

Mogamulizumab-Associated Autoimmune Diseases: Insights From FAERS Database Analysis.

Background: Mogamulizumab is a monoclonal antibody targeting the C-C chemokine receptor 4, used to treat T-cell malignancies such as cutaneous T-cell lymphoma, adult T-cell leukemia/lymphoma, and peripheral T-cell lymphoma. However, real-world studies on mogamulizumab-associated adverse events (AEs) are limited.

Methods: Disproportionality analyses were performed to assess the safety profile of mogamulizumab based on data from the US Food and Drug Administration Adverse Event Reporting System (FAERS) database for the period spanning from October 2018 to December 2023.

The APOL1 p.N264K variant is co-inherited with the G2 kidney disease risk variant through a proximity recombination event.

Black Americans are three to four times more likely to develop nondiabetic kidney disease than other populations. Exclusively found in people of recent African (AFR) ancestry, risk variants in Apolipoprotein L1 (APOL1) termed G1 and G2 contribute significantly to this increased susceptibility. Our group and others showed that a missense variant in APOL1, rs73885316 (p.

PDSS1 mutations-associated steroid-resistant nephrotic syndrome: case report and review of literature.

PDSS1 mutations hamper Coenzyme Q10 biosynthesis and cause a rare multisystem mitochondrial disease characterized by diverse clinical features and limited treatment options. To date, renal involvement has been reported in only one patient. We report a new female patient with compound heterozygous PDSS1 mutations and the clinical outcome following a trial of Coenzyme Q10 therapy.

Outcomes of Covid-19 Vaccine-Associated Glomerular Diseases (CVAGD) - A Case Series from India.

Background: Several cases of glomerular diseases following Covid-19 vaccination, especially mRNA vaccines, have been reported. However, there is little data on glomerular diseases associated with the two vaccines widely available in India (Covaxin and Covishield) and their long-term outcomes.

Materials And Methods: This was a prospective observational study conducted between May 2021 and May 2023.