Results 61 to 70 of about 1,147,808 (181)

Creation of X-linked Alport syndrome rat model with Col4a5 deficiency

Scientific Reports, 2021
Alport syndrome is an inherited chronic human kidney disease, characterized by glomerular basement membrane abnormalities. This disease is caused by mutations in COL4A3, COL4A4, or COL4A5 gene.
Masumi Namba, Tomoe Kobayashi, Mayumi Kohno, Takayuki Koyano, Takuo Hirose, Masaki Fukushima, Makoto Matsuyama   +6 more
doaj   +1 more source

Alport Syndrome With Kidney Cysts Is Still Alport Syndrome [PDF]

Kidney International Reports, 2022
Savige, J, Mack, H, Thomas, R, Langsford, D, Pianta, T   +4 more
openaire   +4 more sources

Alport Syndrome in Women and Girls

, 2016
Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities. Inheritance is X-linked (85%) or autosomal recessive (15%).
Deb Colville, Michelle Rheault, Susie Gear, Frances Flinter, Colville, D, Lennon, R; id_orcid, Flinter, F, Gear, S, Judy Savige, Rachel Lennon, Finlay, M, Rheault, M, Moira Finlay, Sharon Lagas, Savige, J, Lagas, S   +15 more
core   +1 more source

Bilateral Giant Full Thickness Macular Holes: An Infrequent Manifestation of Alport Syndrome

Journal of Ophthalmic & Vision Research, 2023
Purpose: To report a case of Alport syndrome presenting with bilateral giant full-thickness macular holes, hypertensive chorioretinopathy, and exudative retinal detachment.
Saeed Karimi, Niloofar Mohammad Bagheri Rafsanjani   +1 more
doaj   +1 more source

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   +1 more source

Literary Research on Alport Syndrome [PDF]

, 2014
Alport syndrome is rare genetic disorder of the glomerulus in the kidneys that can be X-linked, Autosomal recessive, or Autosomal dominant in nature. Clinical manifestation includes hearing loss, hematuria, proteinuria, and hypertension (Cheungpasitporn,
Jain, Shailendra
core  

Alport syndrome and eye

Kidney Research and Clinical Practice
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
Yeonji Jang, Jae Ho Jung
openaire   +2 more sources

The role of cyclooxygenase-2 (COX-2) and inflammatory markers in the progress of Alport syndrome in Egyptian children

BMC Pediatrics
Background Chronic inflammation and its control are crucial to the responses of glomerular and renal tubular cells. This contributes to the pathogenic mechanisms and advancement of the disease in Alport syndrome.
Moushira Zaki, Hisham A. Orban, Mohamed A. Shahba, Rehab S. I. Moustafa, Ahmed Adel, Fatina I. Fadel, Abeer Selim, Hala T. El-Bassyouni, Eman R. Youness   +8 more
doaj   +1 more source

Complete Atrioventricular Block in a Young Patient With Alport Syndrome: A Case Report

Annals of Internal Medicine: Clinical Cases
Complete atrioventricular block (AVB) has not been previously reported in patients with Alport syndrome with normal kidney function. We describe a rare case of a young man with Alport syndrome who developed complete AVB.
Zuoyi Zhou, Long Zhang, Qinhui Sheng, Yanjun Gong, Jianping Li   +4 more
doaj   +1 more source

Genetic heterogeneity of Alport syndrome [PDF]

, 1985
Genetic heterogeneity of Alport syndrome. Forty-one families have been studied with stringent diagnostic criteria of Alport syndrome: proven renal disease with hematuria affecting at least two relatives, neural hearing loss in at least one affected ...
Chompert, Agnès, Grünfeld, Jean-Pierre, Gubler, Marie-Claire, Bois, Etienne, Feingold, Josué, Broyer, Michel   +5 more
core   +1 more source