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.

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.

Review of plasma exchange and rituximab for prevention of recurrent focal segmental glomerulosclerosis after a prior graft loss.

Background: Focal segmental glomerulosclerosis (FSGS) often recurs after transplantation, leading to graft dysfunction and graft loss. Patients who have lost prior grafts due to recurrence are at particularly high risk of re-recurrence in subsequent grafts. Rituximab and plasma exchange have been used pre-emptively to prevent post-transplant recurrence.

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.

Focal segmental glomerulosclerosis and neurogenic bladder in a Chinese patient with a novel pathogenic variation in TRIM8 gene: A case report.

To report a novel variation in the TRIM8 gene in a Chinese patient who developed focal segmental glomerulosclerosis (FSGS) and neurogenic bladder. Retrospective analysis of the clinical manifestations, laboratory results, renal biopsy results, and genetic data of the patient with FSGS complicated with neurogenic bladder. The patient was a 6-year and 8-month-old Chinese Zang ethnic boy with low-set ears, widely-spaced eyes (inner canthal distance exceeds the 95th percentile of normal inner canthal distance), a small jaw, and a short neck.

Podocyte YAP ablation decreases podocyte adhesion and exacerbates FSGS progression through α3β1 integrin.

Severe proteinuria in focal segmental glomerulosclerosis (FSGS) is closely associated with decreased adhesion, and subsequent loss, of podocytes. Yes-associated protein (YAP) is a key transcriptional coactivator that plays a significant role in maintaining cellular homeostasis. However, its role in podocyte adhesion and its specific mechanism in FSGS progression remain unclear.

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 .

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.

Demonstration of cavitary legionnaires' pneumonia in a renal transplant recipient.

Legionella pneumophila is a potentially life-threatening infection, especially for individuals with compromised cell-mediated immunity. Typical chest CT findings include multilobed or multisegmented consolidations and ground-glass opacities, but cavitary lesions are rare. This case report details a 29-year-old male renal transplant recipient who developed cavitary Legionnaires' pneumonia.

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.

Unveiling the podocyte-protective effect of sodium-glucose cotransporter-2 inhibitors.

The renoprotective effects of sodium-glucose cotransporter-2 (SGLT2) inhibitors in both diabetic and nondiabetic nephropathy are widely recognized due to results from randomized controlled trials notably the DAPA-CKD and EMPA-KIDNEY trials. Research exploring the mechanisms of renoprotection indicates that SGLT2 inhibitors exert protective effects on podocytes by enhancing autophagy and stabilizing the structure of podocytes and basement membranes. Furthermore, reductions in lipotoxicity, oxidative stress, and inflammation have been confirmed with SGLT2 inhibitor treatment.

Comprehensive review of mitochondrial nephropathy-a renal phenotype in mitochondrial disease: causative genes, clinical and pathological features, diagnosis, prognosis, and treatment.

Mitochondrial nephropathy is a genetic renal disease characterized by oxidative phosphorylation abnormalities in the mitochondrial respiratory chain in kidney cells, caused by pathogenic gene variants located on mitochondrial or nuclear DNA. Recent advancements in genetic diagnostic techniques and their widespread adoption have led to the identification of various genes associated with mitochondrial nephropathy. This review investigates the causative genes and clinicopathological features of mitochondrial nephropathy, including the various phenotypes and associated complications, and suggests potential pathogenic mechanisms.

Dynll1-PI31 Interaction Enhances Proteolysis via the Proteasome, Representing a Novel Therapeutic Target for INF2-Related FSGS.

Background: The p.Arg218Gln (R218Q) mutation in the inverted formin 2 (INF2) gene causes podocytopathy prone to focal segmental glomerulosclerosis (FSGS). This mutation disrupts the ability of INF2 to sequester DYNLL1, thus promoting dynein-mediated mistrafficking of the slit diaphragm protein, nephrin, to proteolytic pathways.

Steroid-Induced Psychosis in a Child With Nephrotic Syndrome Secondary to Focal Segmental Glomerulosclerosis: A Case Report.

Corticosteroid-induced psychosis is rare and less reported in children compared to adults. However, psychosis is considered a severe adverse effect of corticosteroids in pediatric nephrotic syndrome. Steroid-induced psychosis is dose-dependent and should be treated by tapering the dose of steroids and usually initiating an atypical antipsychotic.

Co-occurrence of Charcot-Marie-Tooth disease type 1 and glomerulosclerosis in a patient with a de novo INF2 variant.

Background: Renal disease is associated with Charcot-Marie-Tooth disease (CMT), a common inherited neurological disorder. Three forms of CMT have been identified: CMT1 of the demyelinating type, CMT2 of the axonal defect type, and intermediate type (Int-CMT). INF2 is an important target for variants that cause the complex symptoms of focal segmental glomerulosclerosis (FSGS) and CMT.

Ocular Coherence Tomography Unveils Alport Syndrome: A Critical Tool in Detecting Collagen IV Nephropathies.

Collagen IV pathogenic variants are present in Alport syndrome (AS) and some forms of familial focal segmental glomerulosclerosis (FSGS). These conditions pose diagnostic challenges due to overlapping clinical, histological, and genetic features. Ocular coherence tomography (OCT) has emerged as a pivotal diagnostic tool by revealing ocular manifestations characteristic of AS.

May-Hegglin anomaly associated nephropathy: Case series.

May-Hegglin anomaly (MHA) is a rare autosomal dominant disease associated with a mutation in the MYH-9 gene. It is characterized by macrothrombocytopenia and neutrophils with abnormal cytoplasmic inclusions. Clinical features of this disease include hearing loss, early cataracts, and renal failure.