Results 11 to 20 of about 1,147,808 (181)
Clinical Journal of the American Society of Nephrology, 2022 Digenic Alport syndrome refers to the inheritance of pathogenic variants in COL4A5 plus COL4A3 or COL4A4 or in COL4A3 plus COL4A4. Where digenic Alport syndrome includes a pathogenic COL4A5 variant, the consequences depend on the sex of the affected individual, COL4A5 variant “severity,” and the nature of the COL4A3 or COL4A4 change.
Judy Savige +11 more
core +7 more sources
, 2018 Alport syndrome is a multisystem disorder including progressive renal disease, sensorineural deafness, and eye abnormalities. The high risk of cardiovascular pathology in patients with Alport syndrome was also described recently. The syndrome is caused by mutations in COL4A3, COL4A4, and COL4A5 genes, which lead to defects in glomerular filtration ...
Aksenova, Marina, Shagam, Lev
core +5 more sources
Nepalese Journal of Ophthalmology, 1970 Alport syndrome is an oculo-renal syndrome characterized by a triad of clinical findings consisting of hemorrhagic nephritis, sensorineural hearing loss and characteristic ocular findings. We report a young male patient who presented with painless diminution of vision associated with hearing loss.
P, Karki, J K, Shrestha
openaire +4 more sources
Ocular manifestation of the Alport syndrome: A case report
Muller Journal of Medical Sciences and Research, 2015 The Alport syndrome is a rare genetic disorder characterized by hematuria, sensorineural deafness, and ocular manifestations. The Alport syndrome accounts for 0.3 to 2.3% of end-stage kidney disease in young males and children.
Ayyakutty Muni Raja +3 more
doaj +2 more sources
Multiple Vitelliform Lesions as a Retinal Manifestation of Alport Syndrome
Case Reports in Ophthalmology, 2020 Alport syndrome is associated with various ocular phenotypic features, including several retinal manifestations. The purpose of this case report was to describe a case of multiple vitelliform lesions in Alport syndrome.
Kathrine O. Eriksen +1 more
doaj +2 more sources
Long-term management of Alport syndrome in pediatric patients
Pediatric Health, Medicine and Therapeutics, 2013 Clifford E Kashtan Department of Pediatrics, Division of Nephrology, University of Minnesota Medical School, Minneapolis, MN, USA Abstract: Alport syndrome, an important inherited cause of end-stage renal disease, has long been considered an untreatable ...
Kashtan CE
doaj +1 more source
The 2014 International Workshop on Alport Syndrome [PDF]
, 2014 Alport syndrome, historically referred to as hereditary glomerulonephritis with sensorineural deafness and anterior lenticonus, is a genetic disease of collagen α3α4α5(IV) resulting in renal failure.
Gale, Daniel P. +36 more
core +6 more sources
What patients want to know about genetic testing for kidney disease
Frontiers in Medicine, 2023 Previously, genetic kidney disease was often recognised when family members shared clinical features. Now, many genetic kidney diseases are diagnosed when testing demonstrates a pathogenic variant in a gene associated with the disease.
Judy Savige, B. André Weinstock
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Clinical, Pathological and Genetic Analysis of Alport Syndrome in Children
罕见病研究, 2022 Objective To explore the phenotype-genotype correlation of Alport syndrome in children. Methods Retrospectively analyze the clinical and pathological features of 55 patients with Alport syndrome with COL4A mutations detected by second-generation ...
NI Jie +3 more
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“Blink and you'll miss it”- A case report of Alport syndrome
Journal of Clinical Ophthalmology and Research, 2023 Alport syndrome is a rare disorder of abnormal type IV collagen affecting basement membranes of the glomerulus, cochlea, and ocular structures. A young male presenting with characteristic ocular signs as well as systemic manifestations of Alport syndrome.
Faiza Syed Jafar +2 more
doaj +1 more source