Alport syndrome: achieving early diagnosis and treatment

CE Kashtan - American Journal of Kidney Diseases, 2021 - Elsevier
Alport syndrome is a genetically and phenotypically heterogeneous disorder of glomerular,
cochlear, and ocular basement membranes resulting from mutations in the collagen IV …

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] Early angiotensin-converting enzyme inhibition in Alport syndrome delays renal failure and improves life expectancy

O Gross, C Licht, HJ Anders, B Hoppe, B Beck… - Kidney international, 2012 - Elsevier
Alport syndrome inevitably leads to end-stage renal disease and there are no therapies
known to improve outcome. Here we determined whether angiotensin-converting enzyme …

Alport syndrome—insights from basic and clinical research

J Kruegel, D Rubel, O Gross - Nature Reviews Nephrology, 2013 - nature.com
Abstract In 1927, Arthur C. Alport first published his description of a triad of symptoms in a
family with hereditary congenital haemorrhagic nephritis, deafness and ocular changes. A …

Human pathogens utilize host extracellular matrix proteins laminin and collagen for adhesion and invasion of the host

B Singh, C Fleury, F Jalalvand… - FEMS microbiology …, 2012 - academic.oup.com
Laminin (Ln) and collagen are multifunctional glycoproteins that play an important role in
cellular morphogenesis, cell signalling, tissue repair and cell migration. These proteins are …

FGF23 directly impairs endothelium-dependent vasorelaxation by increasing superoxide levels and reducing nitric oxide bioavailability

N Silswal, CD Touchberry, DR Daniel… - American Journal …, 2014 - journals.physiology.org
Fibroblast growth factor 23 (FGF23) is secreted primarily by osteocytes and regulates
phosphate and vitamin D metabolism. Elevated levels of FGF23 are clinically associated …

The renin–angiotensin system and malignancy

EI Ager, J Neo, C Christophi - Carcinogenesis, 2008 - academic.oup.com
The renin–angiotensin system (RAS) is usually associated with its systemic action on
cardiovascular homoeostasis. However, recent studies suggest that at a local tissue level …

FGF23 is a novel regulator of intracellular calcium and cardiac contractility in addition to cardiac hypertrophy

CD Touchberry, TM Green… - American Journal …, 2013 - journals.physiology.org
Fibroblast growth factor 23 (FGF23) is a hormone released primarily by osteocytes that
regulates phosphate and vitamin D metabolism. Recent observational studies in humans …

Clinical practice recommendations for the treatment of Alport syndrome: a statement of the Alport Syndrome Research Collaborative

CE Kashtan, J Ding, M Gregory, O Gross, L Heidet… - Pediatric …, 2013 - Springer
We present clinical practice recommendations for the treatment of children with Alport
syndrome who are not enrolled in clinical trials. Our goal is to promote early initiation of a …

[HTML][HTML] Novel therapies for Alport syndrome

E Chavez, J Rodriguez, Y Drexler, A Fornoni - Frontiers in medicine, 2022 - frontiersin.org
Alport syndrome (AS) is a hereditary kidney disease associated with proteinuria, hematuria
and progressive kidney failure. It is characterized by a defective glomerular basement …