Clinical practice recommendations for the diagnosis and management of Alport syndrome in children, adolescents, and young adults–an update for 2020
CE Kashtan, O Gross - Pediatric Nephrology, 2021 - Springer
In 2013, we published a set of clinical practice recommendations for the treatment of Alport
syndrome in this journal. We recommended delaying the initiation of angiotensin-converting …
syndrome in this journal. We recommended delaying the initiation of angiotensin-converting …
[HTML][HTML] Genetic basis of type IV collagen disorders of the kidney
The glomerular basement membrane is a vital component of the filtration barrier of the
kidney and is primarily composed of a highly structured matrix of type IV collagen. Specific …
kidney and is primarily composed of a highly structured matrix of type IV collagen. Specific …
Prevalence estimates of predicted pathogenic COL4A3–COL4A5 variants in a population sequencing database and their implications for Alport syndrome
Background The reported prevalence of Alport syndrome varies from one in 5000 to one in
53,000 individuals. This study estimated the frequencies of predicted pathogenic COL4A3 …
53,000 individuals. This study estimated the frequencies of predicted pathogenic COL4A3 …
Guidelines for genetic testing and management of Alport syndrome
J Savige, BS Lipska-Zietkiewicz, E Watson… - Clinical Journal of the …, 2022 - journals.lww.com
Genetic testing for pathogenic COL4A3–5 variants is usually undertaken to investigate the
cause of persistent hematuria, especially with a family history of hematuria or kidney function …
cause of persistent hematuria, especially with a family history of hematuria or kidney function …
A neutralizing IL-11 antibody improves renal function and increases lifespan in a mouse model of alport syndrome
AA Widjaja, SG Shekeran, E Adami… - Journal of the …, 2022 - journals.lww.com
Background Alport syndrome is a genetic disorder characterized by a defective glomerular
basement membrane, tubulointerstitial fibrosis, inflammation, and progressive renal failure …
basement membrane, tubulointerstitial fibrosis, inflammation, and progressive renal failure …
Anti-microRNA-21 therapy on top of ACE inhibition delays renal failure in Alport syndrome mouse models
D Rubel, J Boulanger, F Craciun, EY Xu, Y Zhang… - Cells, 2022 - mdpi.com
Col4a3−/− Alport mice serve as an animal model for renal fibrosis. MicroRNA-21 (miR-21)
expression has been shown to be increased in the kidneys of Alport syndrome patients …
expression has been shown to be increased in the kidneys of Alport syndrome patients …
[HTML][HTML] Alport syndrome
S Watson, SA Padala, MF Hashmi, JS Bush - StatPearls [Internet], 2023 - ncbi.nlm.nih.gov
Alport Syndrome - StatPearls - NCBI Bookshelf US flag An official website of the United
States government Here's how you know NIH NLM Logo Access keys NCBI Homepage …
States government Here's how you know NIH NLM Logo Access keys NCBI Homepage …
[HTML][HTML] Gross and Microscopic Hematuria
SW Leslie, K Hamawy, MO Saleem - StatPearls [Internet], 2024 - ncbi.nlm.nih.gov
Objectives: Differentiate gross hematuria and microscopic hematuria. Implement evidence-
based protocols for the evaluation of patients with gross and microscopic hematuria. Select …
based protocols for the evaluation of patients with gross and microscopic hematuria. Select …
[HTML][HTML] Genetic background, recent advances in molecular biology, and development of novel therapy in Alport syndrome
Alport syndrome (AS) is a progressive inherited kidney disease characterized by hearing
loss and ocular abnormalities. There are three forms of AS depending on inheritance mode …
loss and ocular abnormalities. There are three forms of AS depending on inheritance mode …
Effects of ramipril on biomarkers of endothelial dysfunction and inflammation in hypertensive children on maintenance hemodialysis: the SEARCH randomized …
Background: Hypertension, endothelial dysfunction, and inflammation are associated with
increased cardiovascular mortality in end-stage kidney disease. We evaluated the effects of …
increased cardiovascular mortality in end-stage kidney disease. We evaluated the effects of …