Results 11 to 20 of about 6,803 (205)
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
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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
, 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
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Genetic technology in the targeted therapy of Alport Syndrome
Quality in SportIntroduction and aim of the study: Alport syndrome is the most common inherited chronic kidney disease, with three distinct patterns of inheritance: X-linked, autosomal, and digenic. Currently, there is no curative treatment for Alport syndrome.
Magdalena Kłusek +3 more
doaj +3 more sources
Sporadic Case of Heterozygous X-linked Alport Syndrome [PDF]
Glomerular Diseases, 2023 Background: Alport syndrome is a genetically and phenotypically heterogeneous disorder that can be transmitted in an X-linked, autosomal recessive, or autosomal dominant fashion and can affect glomerular, cochlear, and ocular basement membranes.
Jonathan Zuckerman, Rachana Srivastava
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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
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Alport syndrome and eye. [PDF]
Kidney Res Clin PractAlport syndrome, characterized by renal failure, hearing loss, and ocular abnormalities due to collagen type IV gene mutations, exhibits distinctive ocular manifestations in the various ocular tissues including the cornea, lens, and retina. Ophthalmological examinations, providing noninvasive visibility of basement membrane anomalies caused by collagen
Jang Y, Jung JH.
europepmc +3 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
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An Alport Syndrome Journey: From Powerless to Empowered – A Patient Perspective
Glomerular Diseases, 2023 As an Alport syndrome patient, caregiver, and executive director of Alport Syndrome Foundation, I am aware of the frequently challenging road in seeking an accurate diagnosis.
Lisa Bonebrake
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