Biomarker search using multidimensional native liquid fractionation of serum in microplates was evaluated. From different donors, homologous sample fractions with UV absorbance depending on state of illness were selected, and their constituents were identified and quantitated by MS. Analysis of sera of patients with Alport syndrome and severe inflammation proved the reliability of the method by confirming characteristic alterations. Moreover, 23 new marker candidates were detected for Alport syndrome, some of them being involved in matrix degradation and repair, and 33 new candidates for severe inflammation, among them alpha1B-glycoprotein cysteine-rich secretory protein and an apparently low molecular-weight albumin variant.
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http://dx.doi.org/10.1016/j.jchromb.2008.10.014 | DOI Listing |
J Fr Ophtalmol
December 2024
Department of Ophthalmology B, institut Hédi-Raies d'ophtalmologie de Tunis, boulevard du 9 avril 1938, 1006 Tunis, Tunisia; Faculty of Medicine of Tunis, University Tunis-El Manar, Tunis, Tunisia; Oculogenetic Laboratory LR14SP01, Tunis, Tunisia.
Digit J Ophthalmol
December 2024
NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, United Kingdom.
We present 3 cases of bilateral anterior lens capsule rupture, all leading to a subsequent diagnosis of Alport syndrome. Clinicians should be alert to the ocular and systemic features of Alport syndrome, especially when presented with a spontaneous rupture of the anterior lens capsule in young males. Ophthalmologists are often the first contact for patients with Alport syndrome, and a sound knowledge of the associated features will enable timely referral to other members of a multidisciplinary team required to treat such patients.
View Article and Find Full Text PDFKidney Int Rep
December 2024
Clinic for Nephrology and Rheumatology, University Medical Center Goettingen, Germany.
Introduction: Large-scale trials showed positive outcomes of sodium-glucose cotransporter-2 inhibitors (SGLT2i) in adults with chronic kidney disease (CKD). Whether the use of SGLT2i is safe and effective in patients with the common hereditary CKD Alport syndrome (AS) has not yet been investigated specifically in larger cohorts.
Methods: This observational, multicenter, international study (NCT02378805) assessed 112 patients with AS after start of SGLT2i.
Nephrol Dial Transplant
December 2024
Centre de Néphrologie et transplantation rénale, Assistance publique-Hôpitaux de Marseille, La Conception Hospital, Marseille, France.
Background: Alport Syndromes (AS) are the second leading genetic cause of Kidney Failure (KF). Whether multiple kidney cysts (MKC) phenotype belongs to the AS spectrum remains debated.
Methods: This multicenter retrospective study focused on patients genotyped with pathogenic COL4A3, COL4A4, or COL4A5 variants (classified as ACMG-AMP 4 or 5) between January 2011 and January 2023 across four French university hospitals.
Int J Mol Sci
December 2024
Katz Family Division of Nephrology and Hypertension, Department of Medicine, University of Miami Miller School of Medicine, Miami, FL 33136, USA.
Mitochondrial dysfunction is a critical factor in the pathogenesis of Alport syndrome (AS), contributing to podocyte injury and disease progression. Ezetimibe, a lipid-lowering drug, is known to inhibit cholesterol and fatty acid uptake and to reduce triglyceride content in the kidney cortex of mice with AS. However, its effects on lipid droplet (LD) utilization by mitochondria have not been explored.
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