Results 21 to 30 of about 8,289 (238)
A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome. [PDF]
PLoS ONE, 2015 Alport syndrome is a genetic condition that results in hematuria, progressive renal impairment, hearing loss, and occasionally lenticonus and retinopathy.
Barshagul T Baikara +5 more
doaj +1 more source
Allergy, Asthma & Clinical Immunology, 2022 Background Hereditary angioedema (HAE) is an inherited disease characterized by recurrent angioedema without urticaria or pruritus. The most common types of HAE are caused by deficiency or dysfunction in C1 esterase inhibitor (C1-INH-HAE).
Yusuke Ushio +13 more
doaj +1 more source
Pathology of hereditary nephritis [PDF]
Journal of Clinical Pathology, 1968 This report describes the renal pathology in three siblings with hereditary nephritis. All three cases showed combined features of chronic glomerulonephritis, pyelonephritis, and interstitial nephritis. Foam cells were seen in only one case. These findings support the contention of Krickstein, Gloor, and Balogh (1966) that the renal changes in ...
openaire +2 more sources
Iatreia, 2019 Alport syndrome is a rare genetic disorder due to mutations involving the coding genes for type IV collagen characterized by renal failure, sensorineural hearing loss and ocular abnormalities.
López Torres, Vanessa +3 more
doaj +1 more source
Serum Soluble Mediator Signatures of Lupus Nephritis: Histologic Features and Response to Treatment
Arthritis Care &Research, EarlyView.Objective Lupus nephritis (LN) management remains challenging, and novel noninvasive biomarkers are needed. This study quantified serum soluble mediators in the Accelerating Medicines Partnership (AMP) LN cohort to identify biomarkers of histologic features and treatment response.
Andrea Fava +48 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective We evaluated the ability of the Renal Activity Index for Lupus (RAIL) to discriminate active lupus nephritis (LN) in adult patients with active systemic lupus erythematosus (SLE) and differentiate LN treatment response. Methods Urine samples from adults with biopsy‐proven active class III and IV LN from TULIP‐LN (active LN group ...
Hermine I. Brunner +12 more
wiley +1 more source
Morphological characteristics of urine erythrocytes in children with erythrocyturia
Zdorovʹe Rebenka, 2017 Background. Nephropathies with erythrocyturia make up about 1/3 of all diseases of the kidneys and the urinary system, and they have some difficulties in differential diagnostics. Quite often, erythrocyturia is the only symptom of these diseases.
V.A. Minakova, I.V. Bagdasarova
doaj +1 more source
Arthritis Care &Research, EarlyView.Objective A patient‐centered approach for chronic disease management, including systemic lupus erythematosus (SLE), aligns treatment with patients’ values and preferences, leading to improved outcomes. This paper summarizes how patient experiences, perspectives, and priorities informed the American College of Rheumatology (ACR) 2024 Lupus Nephritis (LN)
Shivani Garg +20 more
wiley +1 more source
Analysis of the Treatment Efficacy in Late Diagnosis of Alport Syndrome in a Child: Clinical Case
Вопросы современной педиатрии, 2023 Background. Alport syndrome is a systemic, hereditary, progressive disease characterized by ultrastructural changes in the glomerular basement membrane caused by pathogenic variants of type IV collagen genes.
Svetlana Ya. Volgina +5 more
doaj +1 more source
Arthritis Care &Research, EarlyView.Objective This study aimed to characterize the pharmacokinetics, pharmacodynamics, safety, and exploratory efficacy of subcutaneous belimumab in pediatric patients with active systemic lupus erythematosus (SLE) receiving standard therapy. Methods This single‐arm, multicenter, open‐label trial (GSK study 200908; ClinicalTrials.gov identifier ...
Hermine I. Brunner +14 more
wiley +1 more source