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 …

[HTML][HTML] Genetic basis of type IV collagen disorders of the kidney

C Quinlan, MN Rheault - Clinical Journal of the American Society …, 2021 - journals.lww.com
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 …

Prevalence estimates of predicted pathogenic COL4A3–COL4A5 variants in a population sequencing database and their implications for Alport syndrome

J Gibson, R Fieldhouse, MMY Chan… - Journal of the …, 2021 - journals.lww.com
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 …

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 …

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 …

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 …

[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 …

[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 …

[HTML][HTML] Genetic background, recent advances in molecular biology, and development of novel therapy in Alport syndrome

K Nozu, Y Takaoka, H Kai, M Takasato… - Kidney Research and …, 2020 - ncbi.nlm.nih.gov
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 …