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Alport Syndrome: Clinical Spectrum and Therapeutic Advances
Kidney Medicine, 2023 Alport syndrome is a hereditary disorder characterized by kidney disease, ocular abnormalities, and sensorineural hearing loss. Work in understanding the cause of Alport syndrome and the molecular composition of the glomerular basement membrane ...
Vanessa De Gregorio +4 more
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Case Report: A Canonical Splice-Site COL4A5 Variant in Alport Syndrome in a Kazakhstani Family [PDF]
Current Issues in Molecular BiologyBackground: Alport syndrome is a hereditary disorder caused by defects in the type IV collagen network. Although exon variants are primarily associated with Alport syndrome, the clinical significance of intronic variants remains incompletely ...
Diana Basharova +4 more
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Update on Alport Syndrome: The Report of the 2024 International Workshop on Alport Syndrome [PDF]
Kidney International ReportsThe 2024 International Workshop on Alport syndrome brought together people living with Alport Syndrome, clinicians, laboratory scientists, and representatives of pharmaceutical companies to present recent data and discuss issues to advance understanding ...
Thomas M. Oates +12 more
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Kidney Medicine, 2019 Alport syndrome is a hereditary glomerular nephritis associated with hearing loss and eye abnormalities and is classified as X-linked Alport syndrome, autosomal recessive Alport syndrome, and autosomal dominant Alport syndrome.
Taro Akihisa +12 more
doaj +3 more sources
Alport's syndrome and the eye [PDF]
Australian and New Zealand Journal of Ophthalmology, 1989 AbstractAlport's syndrome comprises hereditary deafness, nephritis and ocular abnormalities. The features of Alport's syndrome are illustrated by a family with Alport's syndrome and hereditary oesophageal leiomyomatosis. The evidence that Alport's syndrome is due to a widespread basement membrane disorder is noted. Treatment of anterior lenticonus, the
Paul J Mccartney, R Mcguinness
exaly +3 more sources
Multifactorial Predictors of Renal Outcomes in Alport Syndrome: Integrating Genetic, Clinical, and Cystic Phenotypes [PDF]
Kidney MedicineRationale & Objective: Alport syndrome is an inherited kidney disease with significant clinical heterogeneity. This study aims to explore risk factors affecting the prognosis and investigates the relationship between kidney cysts and clinical ...
Zhuo-ran Song +7 more
doaj +2 more sources
Heterozygous X-linked Alport syndrome in a pregnant woman: A case report [PDF]
SAGE Open Medical Case ReportsAlport syndrome is a genetic disorder of chronic kidney disease, hearing loss, and ocular abnormalities, caused by mutations in type IV collagen. While X-linked Alport Syndrome demonstrates characteristic severe renal failure in males, it has a variable ...
Caroline Gee +3 more
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Alport Syndrome Classification and Management
Kidney Medicine, 2020 Alport syndrome affects up to 60,000 people in the United States. The proposed reclassification of thin basement membrane nephropathy and some cases of focal segmental glomerulosclerosis as Alport syndrome could substantially increase the affected ...
Bradley A. Warady +7 more
doaj +3 more sources
International Journal of Nephrology and Renovascular Disease, 2018 Clifford E Kashtan Division of Nephrology, Department of Pediatrics, University of Minnesota Medical School, Minneapolis, MN 55454, USA Abstract: Alport syndrome is an inherited disorder of basement membrane collagen IV that frequently results in end ...
Kashtan CE
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A case of concurrent Alport syndrome and Nail-patella syndrome posing diagnostic challenge without genetic testing [PDF]
BMC NephrologyHereditary glomerular basement membrane disease is a group of conditions caused by genetic mutations in the development and maintenance of the glomerular basement membrane.
Winston Wing-Shing Fung +5 more
doaj +2 more sources