Familial Mediterranean fever (MFF) is an autosomic recessive, inherited inflammatory disease principally seen in persons from the Mediterranean area. Clinical findings include fever, abdominal pain, and pleuritis. The most severe complication of MFF is renal amyloidosis, manifested as nephrotic syndrome, which evolves into chronic renal failure. In this study, we described clinical findings, evolution, and response to treatment in 52 patients diagnosed with MFF living in Mexico City in whom the most important clinical features were fever and abdominal pain. Differing from previous reported series of patients from the Mediterranean area, patient developed renal amyloidosis during the 20-year follow-up, which suggests that an environmental factor might have a significant influence in development of renal amyloidosis.
Download full-text PDF |
Source |
|---|
Publication Analysis
Top Keywords
Similar Publications
Serum Biomarkers in Transthyretin Amyloidosis: An Overview of Neurofilaments, Cardiac, Renal, and Gastrointestinal Involvement.
Neurol Ther
January 2025
Department of Neuroscience, Università Cattolica del Sacro Cuore, Rome, Italy.
Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a genetic disorder characterized by the deposition of misfolded transthyretin (TTR) protein in tissues, resulting in progressive dysfunction of multiple organs, including the nervous system, heart, kidneys, and gastrointestinal (GI) tract. Noninvasive serum biomarkers have become key tools for diagnosing and monitoring ATTRv. This review examines the role of available biomarkers for neurological, cardiac, renal, gastrointestinal, and multisystemic involvement in ATTRv.
View Article and Find Full Text PDFWaldenström Macroglobulinemia-Induced Cardiac Amyloid Light Chain Amyloidosis.
Ochsner J
January 2024
Division of Cardiology, Baylor Scott & White Medical Center, Temple, TX.
Waldenström macroglobulinemia is a rare cancer of plasma cells characterized by the excessive production of immunoglobulin M (IgM). IgM-associated systemic amyloid light chain (AL) amyloidosis is a rare complication of Waldenström macroglobulinemia, characterized by the misfolding of lambda light chains that deposit in various organs, including the heart. We describe a case of progressive nonischemic cardiomyopathy secondary to Waldenström macroglobulinemia and IgM-associated AL amyloidosis that was refractory to medical therapy and highlight the challenges in diagnosis and management.
View Article and Find Full Text PDFSerum free light chain level-based and non-fixed cycle daratumumab treatment strategy for patients with light chain amyloidosis.
Ann Med
December 2025
National Clinical Research Center for Kidney Diseases, Jinling Hospital, Affiliated Hospital of Medical School, Nanjing University, Nanjing, China.
Background: In recent years, daratumumab (DARA) has gained widespread use in the treatment of systemic light chain (AL) amyloidosis. In this study, we assessed the efficacy and safety of a DARA treatment strategy based on serum free light chain (sFLC) levels and non-fixed cycles.
Methods: The study included 123 patients with Al amyloidosis who received DARA at our center between July 2020 and September 2023.
Monoclonal gammopathy is present in one fourth of patients undergoing renal biopsy but is pathogenic only in half of them.
J Nephrol
December 2024
Nephrology, Dialysis and Transplantation Unit, Careggi University Hospital, Largo Brambilla, 3, 50134, Florence, Italy.
Background: About 4-7% of renal biopsies show a monoclonal gammopathy-related nephropathy, such as AL amyloidosis, cast nephropathy, or light chain deposition disease. Both a high prevalence and a causal role of monoclonal gammopathy have been observed in patients with C3 glomerulopathy or thrombotic microangiopathy, although a definitive causative role cannot be established in most cases (potentially monoclonal gammopathy-related nephropathies). A coexisting monoclonal gammopathy has been identified in many cases of nephropathy without a defined causative role (monoclonal gammopathy-unrelated nephropathies).
View Article and Find Full Text PDFA20 haploinsufficiency diagnosis beyond systemic lupus erythematosus: A systematic review of the literature.
Autoimmun Rev
December 2024
Department of Clinical Immunology and Internal Medicine, CHU of Caen Normandie, 14000 Caen, France; Normandie Univ, UNICAEN, CHU de Caen Normandie, 14000 Caen, France.
Systemic lupus erythematosus (SLE) is an autoimmune disease whose pathophysiology remains incompletely understood, involving genetic and epigenetic factors. However, an increasing small subset of patients present with monogenic lupus, providing insight into the pathogenesis of the disease. This systematic review focuses on SLE associated with A20 haploinsufficiency (HA20), a monogenic disorder associated with tumor necrosis factor alpha-induced protein 3 gene (TNFAIP3) variants.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!