Nephrotic syndrome is one of the most common kidney pathologies in childhood, being characterized by proteinuria, edema, and hypoalbuminemia. In clinical practice, it is divided into two categories based on the response to steroid therapy: steroid-sensitive and steroid resistant. Inherited impairments of proteins located in the glomerular filtration barrier have been identified as important causes of nephrotic syndrome, with one of these being podocin, coded by gene. mutations are the most frequent genetic cause of steroid resistant nephrotic syndrome. The aim of this review is to update the list of mutations reported between June 2013 and February 2017, with a closer look to mutations occurring in Latin American countries.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5529630 | PMC |
| http://dx.doi.org/10.1155/2017/7518789 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Malakoplakia Associated with Diarrhoea and Colonic Lesions After Rituximab Treatment.
Eur J Case Rep Intern Med
December 2024
Gastroenterology Department, Adan Hospital Kuwait, Hadiya, Kuwait.
Unlabelled: Malakoplakia is a rare granulomatous condition that occurs due to defective lysosomal digestion during phagocytosis and can mimic inflammatory bowel disease (IBD) or malignancies, particularly in immunosuppressed patients. We report the case of a 62-year-old male with IgG4-related orbitopathy, who developed persistent diarrhoea and colonic lesions 6 weeks after receiving rituximab therapy for nephrotic syndrome secondary to membranoproliferative glomerulonephritis. Colonoscopy revealed pancolitis with mucosal granularity, loss of vascular pattern, and small nodules, raising initial suspicion for IBD.
View Article and Find Full Text PDFThe mechanisms of tripterygium glycosides-induced reproductive toxicity and detoxification strategies.
Reprod Toxicol
January 2025
Key Laboratory of Shaanxi Administration of Traditional Chinese Medicine for TCM Compatibility, Shaanxi University of Chinese Medicine, Xianyang 712046, Shaanxi Province, China. Electronic address:
Tripterygium glycosides (TG) is a widely used preparation in the treatment of rheumatoid arthritis (RA), nephrotic syndrome and diabetic nephropathy. Although the clinical efficacy is definite, the side-effects on reproductive system limit its wide application. It is of great significance to take measures to alleviate its reproductive toxicity and expand its clinical use.
View Article and Find Full Text PDFAdvancing the clinical assessment of glomerular podocyte pathology in kidney biopsies via super-resolution microscopy and angiopoietin-like 4 staining.
Theranostics
January 2025
Department of Nephrology, China-Japan Friendship Hospital (Institute of Clinical Medical Sciences), Beijing, 100029, China.
The tertiary structure of normal podocytes prevents protein from leaking into the urine. However, observing the complexity of podocytes is challenging because of the scale differences in their three-dimensional structure and the close proximity between neighboring cells in space. In this study, we explored podocyte-secreted angiopoietin-like 4 (ANGPTL4) as a potential morphological marker via super-resolution microscopy (SRM).
View Article and Find Full Text PDFComparing Long-Term Outcomes in Glomerular Disease Patients Presenting with Nephrotic Syndrome Versus Nephrotic Range Proteinuria.
Life (Basel)
December 2024
Department of Nephrology, Faculty of Medicine, University of Medicine and Pharmacy "Carol Davila", 050474 Bucharest, Romania.
Background: Despite extensive research on proteinuria's impact on chronic kidney disease progression, there is no direct comparison of outcomes in biopsy-diagnosed glomerular disease (GD) patients with nephrotic syndrome (NS) or nephrotic range proteinuria (NRP). Our study addresses this gap, comparing long-term outcomes between NS and NRP.
Methods: We conducted a retrospective study on 240 kidney biopsy-proven GD patients, tracked from 2010 to 2015 until end-stage kidney disease (ESKD), death, or the study end in January 2022.
Special Issue "Nephrotic Syndrome: Pathomechanism, Diagnostics, and Novel Treatment Options".
Biomedicines
December 2024
Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Tsu 514-8507, Japan.
Nephrotic syndrome (NS) is characterized by massive proteinuria, hypoproteinemia, and edema [...
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!