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Nerve Enlargement in Patients with INF2 Variants Causing Peripheral Neuropathy and Focal Segmental Glomerulosclerosis.
Biomedicines
January 2025
Second Department of Internal Medicine, Division of Nephrology, Kansai Medical University, Hirakata 573-1010, Japan.
: Charcot-Marie-Tooth (CMT) disease is an inherited peripheral neuropathy primarily involving motor and sensory neurons. Mutations in INF2, an actin assembly factor, cause two diseases: peripheral neuropathy CMT-DIE (MIM614455) and/or focal segmental glomerulosclerosis (FSGS). These two phenotypes arise from the progressive degeneration affecting podocytes and Schwann cells.
View Article and Find Full Text PDFNephrotic and Non-Nephrotic Focal Segmental Glomerulosclerosis: Clinical Characteristics, Etiology, and Columbia Classification.
Diagnostics (Basel)
January 2025
Laboratory of Renal Pathophysiology, Hospital das Clínicas, Faculty of Medicine, University of São Paulo, São Paulo 05508-220, Brazil.
: Focal segmental glomerulosclerosis (FSGS) is a pattern of kidney injury with diverse causes and pathogeneses, resulting in podocyte injury and depletion. It can be classified as primary, genetic, or secondary. Because FSGS classically has a worse prognosis in patients with nephrotic syndrome, most studies have focused on the treatment and evolution of these patients, resulting in a lack of data related to patients without nephrotic syndrome.
View Article and Find Full Text PDFPrecision Medicine Proof-of-Concept Study of a TNF Inhibitor in FSGS and Treatment-Resistant Minimal Change Disease.
Kidney360
November 2024
Department of Internal Medicine, Division of Nephrology, University of Michigan, Ann Arbor, MI, USA.
Background: Focal segmental glomerulosclerosis (FSGS) and treatment-resistant minimal change disease (TR-MCD) are heterogeneous disorders with subgroups defined by distinct underlying mechanisms of glomerular and tubulointerstitial injury. A non-invasive urinary biomarker profile has been generated to identify patients with intra-kidney tumor necrosis factor (TNF)-activation and to predict response to anti-TNF treatment. We conducted this proof-of-concept, multi-center, open-label clinical trial to test the hypothesis that in patients with FSGS or TR-MCD and evidence of intra-renal TNF activation based on their biomarker profile, short-term treatment with adalimumab would reverse the elevated urinary excretion of MCP-1 and TIMP-1.
View Article and Find Full Text PDFIntroduction: This study aims to explore the reno-protective effect of Curcumin in focal and segmental glomerulosclerosis (FSGS) in Murine models, a common chronic glomerulopathy that leads to end stage renal disease.
Methods: Adult Wistar rats were used in this experiment. One group was treated with intravenous Adriamycin (ADR) injection to induce FSGS similar to that seen in humans and a second group was co-administered ADR and Curcumin (ADR-CUR).
Traditional, alternative, and emerging therapeutics for focal segmental glomerulosclerosis.
Expert Opin Pharmacother
January 2025
Unit of Nephrology and Dialysis, Department of Clinical and Experimental Medicine, A.O.U. "G.Martino", University of Messina, Messina, Italy.
Introduction: Segmental focal glomerulosclerosis is a histological lesion characterized by podocyte damage. It may be a primary disease linked to an unknown circulating factor, secondary to viral infections, drug toxicity, or a disadaptive response to the loss of nephrons, or it may depend on gene mutations or have an indeterminate cause. The treatment of the primary form involves immunosuppressors.
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