The role of discoidin domain receptor 2 in the renal dysfunction of alport syndrome mouse model
Alport syndrome (AS) is a hereditary glomerular nephritis caused by mutation in one of the type IV collagen genes α3/α4/α5 that encode the heterotrimer COL4A3/4/5.
Yuya Sannomiya +10 more
doaj +1 more source
Benign TdT-positive cells in pediatric and adult lymph nodes: a potential diagnostic pitfall [PDF]
Benign TdT-positive cells have been documented in a variety of non-hematopoietic tissues. Scant data are however available on their presence in non-neoplastic lymph nodes.
AGOSTINELLI, CLAUDIO +8 more
core +1 more source
Alternative Pathway Dysregulation and the Conundrum of Complement Activation by IgG4 Immune Complexes in Membranous Nephropathy [PDF]
Membranous nephropathy (MN), a major cause of nephrotic syndrome, is a non-inflammatory immune kidney disease mediated by IgG antibodies that form glomerular subepithelial immune complexes.
Dorin-Bogdan Borza
core +2 more sources
The clinical epidemiology of young adults starting renal replacement therapy in the UK:presentation, management and survival using 15 years of UK Renal Registry data [PDF]
Background: Clinical epidemiology data for young adults on renal replacement therapy (RRT) is lacking. Whilst mostly transplanted, they have an increased risk of graft loss during young adulthood. Methods: We combined the UK Renal Registry paediatric and
Ben-Shlomo, Yoav +4 more
core +2 more sources
Background X‐linked Alport syndrome (XLAS) is a progressive, hereditary glomerular nephritis of variable severity caused by pathogenic COL4A5 variants. Currently, genetic testing is widely used for diagnosing XLAS; however, determining the pathogenicity ...
Tomoko Horinouchi +17 more
doaj +1 more source
Evaluation of an Abnormal Urinalysis in the Asymptomatic Patient [PDF]
Physicians are occasionally presented with the problem of evaluating a patient who has an abnormal urinalysis but who has no other sign or symptom of genitourinary (GU) tract disease.
Landwehr, Douglas M.
core +1 more source
Hereditary Nephritis and Thin Glomerular Basement Membrane Lesion. [PDF]
Lusco MA, Fogo AB.
europepmc +1 more source
A Novel DNA Repair Disorder With Thrombocytopenia, Nephrosis, and Features Overlapping Cockayne Syndrome [PDF]
We report on four siblings with Cockayne-like syndrome with thrombocytopenia and nephrotic syndrome. The parents were healthy and consanguineous, consistent with an autosomal recessive mode of disease inheritance.
Cockayne +11 more
core +3 more sources
Clinical and pathological characteristics of patients with glomerular diseases at a university teaching hospital: 5-year prospective review [PDF]
OBJECTIVE. To examine the prevalence of glomerular disease in Hong Kong. DESIGN. Prospective review. SETTING. University teaching hospital, Hong Kong. PATIENTS. All patients who presented with suspected glomerular disease from 1993 through 1997. MAIN
Chan, DTM, Chan, KW, Cheng, IKP
core
Genetic aberrations in macroautophagy genes leading to diseases [PDF]
The catabolic process of macroautophagy, through the rapid degradation of unwanted cellular components, is involved in a multitude of cellular and organismal functions that are essential to maintain homeostasis.
Klionsky, Daniel J +2 more
core +1 more source

