Amyloidosis with renal involvement is a well-known cause of nephrotic syndrome. Immunoglobulin light-chain amyloidosis (AL), which is a result of monoclonal light-chain deposition in the kidney from plasma cell dyscrasia, is rare before the age of 40 and typically occurs in old patients. Most cases of renal amyloidosis in young patients are secondary to chronic inflammatory disease. We are reporting a case of a 37-year-old male who was transferred to our hospital for evaluation of possibly acquired bleeding disorder. He was initially presented to an outside hospital with bleeding per rectum for three days duration and one-week history of abdominal pain and bloating. He was found to have nephrotic range proteinuria with hypoalbuminemia and hyperlipidemia. A kidney biopsy was performed to identify the cause of his nephrotic syndrome, and a biopsy showed AL amyloidosis. Bone marrow biopsy performed showed plasma cell myeloma, and the patient was started on induction chemotherapy. Even though the incidence of AL amyloidosis is low before age of 40, we should always perform monoclonal gammopathy workup in patients with nephrotic syndrome regardless of the age. Prompt bone marrow biopsy should be performed to confirm the diagnosis, and starting the treatment as one of the factors that affect the prognosis of AL amyloidosis is early diagnosis.
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http://dx.doi.org/10.7759/cureus.18120 | DOI Listing |
Nephrol Dial Transplant
January 2025
Manchester Institute of Nephrology and Transplantation, Manchester University NHS Foundation Trust, Manchester, UK.
Background And Hypothesis: The PLA2R antibody test is a valuable first-line diagnostic tool for primary membranous nephropathy (MN), helping to identify PLA2R-related MN and potentially eliminating the need for a kidney biopsy in some individuals. By reducing the reliance on biopsies, the test streamlines diagnosis and improves patient care. However, determining the optimal PLA2R measurement method and cut-off is critical to maximising the benefits of the test and minimising any harms.
View Article and Find Full Text PDFClin Nephrol Case Stud
January 2025
Department of Medicine.
Minimal change disease (MCD) accounts for 10 - 15% of idiopathic nephrotic syndromes in adults. Chronic hepatitis C virus (HCV) infection is rarely ascribed as a cause of MCD and was previously associated with interferon-based therapy. MCD in treatment-naïve chronic HCV infection is extremely rare, with only 3 cases reported in the literature.
View Article and Find Full Text PDFNarra J
December 2024
Eijkman Research Center for Molecular Biology, National Research and Innovation Agency (BRIN), Bogor, Indonesia.
Nephrotic syndrome, a multifaceted medical condition characterized by significant proteinuria, has recently prompted a reorientation of research efforts toward B-cell-mediated mechanisms. This shift underscores the pivotal role played by B-cells in its pathogenesis. The aim of this study was to explore potential therapeutic pathways, with specific attention given to compounds found in , including withanolides, such as physalins, which constitute one of the five distinct withanolide subgroups identified in .
View Article and Find Full Text PDFPediatr Nephrol
January 2025
Department of Nephrology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Center), Tongji Medical College, Huazhong University of Science & Technology, Wuhan, China.
Background: Steroid-resistant nephrotic syndrome (SRNS) is insensitive to steroid therapy and overwhelmingly progresses to kidney failure (KF), the known pathogenic genes of which include key subunits of the nuclear pore complex (NPC), a less-recognized contributor to glomerular podocyte injury.
Methods: After analyzing their clinical characterizations and obtaining parental consent, whole-exome sequencing (WES) was performed on patients with SRNS. Several nucleoporin (NUP) biallelic pathogenic variants were identified and further analyzed by cDNA-PCR sequencing from white cells of peripheral blood, minigene assay, immunohistochemical (IHC) staining, and electron microscopy (EM) ultrastructure observation of kidney biopsy, as well as multiple in silico prediction tools, including 3D protein modeling.
Am J Pathol
January 2025
Division of Nephrology, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO, USA; Department of Cell Biology & Physiology, Washington University School of Medicine, St. Louis, MO, USA. Electronic address:
Cellular stress conditions, such as oxidative and endoplasmic reticulum (ER) stresses contribute to development of various kidney diseases. Oxidative stress is prompted by reactive oxygen species (ROS) accumulation and delicately mitigated by glutathione and thioredoxin (Trx) antioxidant systems. Initially identified as a Trx-binding partner, thioredoxin interacting protein (TXNIP) is significantly upregulated and activated by oxidative and ER stresses.
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