Results 1 to 10 of about 12,421 (264)

Multiple Vitelliform Lesions as a Retinal Manifestation of Alport Syndrome [PDF]

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, Øystein Kalsnes Jørstad   +1 more
doaj   +2 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

Alport Syndrome

, 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
openaire   +5 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

Digenic Alport Syndrome in Children: A Systematic Review of Case Reports and Case Series

Indian Pediatrics Case Reports
Background: Alport syndrome comprises inherited heterogeneous disorders involving kidneys with varying combinations of ocular pathologies and hearing loss. Digenic Alport syndrome is a pathologic variant of Alport syndrome in which there is a mutation in
Rashida Ali, Vindhya Solanki, P. Athira, Girish Chandra Bhatt   +3 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

A case of concurrent Alport syndrome and Nail-patella syndrome posing diagnostic challenge without genetic testing [PDF]

BMC Nephrology
Hereditary 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, Maggie Lo-Yee Yau, Pensi Ping Hei Lam, Cheuk-Chun Szeto, Shuk-Ching Chong, Kai-Ming Chow   +5 more
doaj   +2 more sources

Efficacy of Nrf2 activation in a proteinuric Alport syndrome mouse model [PDF]

Life Science Alliance
A novel NRF2 activator in combination with an angiotensin receptor blocker prominently prolonged the lifespan of an Alport syndrome mouse model. Activation of nuclear factor erythroid 2–related factor 2 (Nrf2) has shown protective effects in experimental
Shota Kaseda, Jun Horizono, Yuya Sannomiya, Jun Kuwazuru, Mary Ann Suico, Ryoichi Sato, Hirohiko Fukiya, Hidetoshi Sunamoto, Sayaka Ogi, Takashi Matsushita, Yuimi Koyama, Aimi Owaki, Haruki Tsuhako, Masahiro Shiraga, Hiroshi Watanabe, Takehiro Nakano, Bernard Davenport, Kandai Nozu, Masayuki Yamamoto, Tsuyoshi Shuto, Yasunori Tokunaga, Rachel Lennon, Kazuhiro Onuma, Hirofumi Kai   +23 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

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
doaj   +1 more source