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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, Emine Bilge Caparali, Azadeh Shojaei, Samantha Ricardo, Moumita Barua   +4 more
doaj   +3 more sources

Update on Alport Syndrome: The Report of the 2024 International Workshop on Alport Syndrome [PDF]

Kidney International Reports
The 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, Moumita Barua, Susie Gear, A. Neil Turner, Rachel Lennon, Hirofumi Kai, Daniel P. Gale, Marina Aksenova, Judith Savige, Oliver Gross, Laura Massella, Jeffrey H. Miner, Constantinos Deltas   +12 more
doaj   +2 more sources

Case Report: A Canonical Splice-Site COL4A5 Variant in Alport Syndrome in a Kazakhstani Family [PDF]

Current Issues in Molecular Biology
Background: 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, Ayazhan Bekbayeva, Gulnara Svyatova, Aizhan Darmeshova, Elena Zholdybayeva   +4 more
doaj   +2 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
R Mcguinness
exaly   +3 more sources

Glomerular Basement Membrane Protein Expression and the Diagnosis and Prognosis of Autosomal Dominant Alport Syndrome

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, Masayo Sato, Yoshie Wakayama, Sekiko Taneda, Shigeru Horita, Orie Hirose, Shiho Makabe, Hiroshi Kataoka, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Kosaku Nitta, Toshio Mochizuki   +12 more
doaj   +3 more sources

Multifactorial Predictors of Renal Outcomes in Alport Syndrome: Integrating Genetic, Clinical, and Cystic Phenotypes [PDF]

Kidney Medicine
Rationale & 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, Yang Li, Zhi-ying Liu, Meng-shi Li, Yu-qing Chen, Ji-cheng Lv, Xu-jie Zhou, Hong Zhang   +7 more
doaj   +2 more sources

Tractional Retinoschisis: A Subtle and Rare Manifestation of X-Linked Alport Syndrome – A Case Report [PDF]

Case Reports in Ophthalmology
Introduction: Alport syndrome is a genetic condition characterized by chronic kidney disease, hearing loss, and a wide range of ophthalmological alterations.
Diogo Valente Fortunato, João Vasco Garrido, João Mendes   +2 more
doaj   +2 more sources

Heterozygous X-linked Alport syndrome in a pregnant woman: A case report [PDF]

SAGE Open Medical Case Reports
Alport 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, Matthew D. Nguyen, Dao Le, Ramy Hanna   +3 more
doaj   +2 more sources

Alport syndrome and eye. [PDF]

Kidney Res Clin Pract
Alport 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

Renal transplantation in patients with Alport syndrome: patient selection, outcomes, and donor evaluation

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
doaj   +2 more sources