Results 81 to 90 of about 1,147,808 (181)

Stair-Case/Honeycomb Maculopathy in Alport Syndrome: A Case Report

Case Reports in Ophthalmology
Introduction: Alport syndrome is an inherited disease caused by mutations in COL4A5, COLA3, or COL4A4 resulting in kidney failure, hearing loss, and ocular symptoms.
Zainab Rustam, Sarah Aman, Nakul Singh, Rose Tan, Amir H. Kashani, Peter A. Campochiaro   +5 more
doaj   +1 more source

Mice as Early Biomarkers of Alport Syndrome

, 2015
The efficiency of the inhibition of the angiotensin converting enzyme, the most widely used therapy for the Alport syndrome, depends on the onset of the therapy-the earlier the better.
Heidrun Rhode, Petra Muckova, Mandy Alert, Wendler, Sindy, Diana Rubel, Muckova, Petra, Gross, Oliver, Rita Büchler, Rubel, Diana, Rhode, Heidrun, Buechler, Rita, Oliver Gross, Alert, Mandy, Sindy Wendler   +13 more
core   +1 more source

Bilateral giant macular holes: A rare manifestation of Alport syndrome

, 2018
Purpose: Alport syndrome is a rare condition characterized by the clinical triad of nephritic syndrome, sensorineural deafness, and ophthalmological alterations.
Cristina Fonseca, Miguel Raimundo, João Figueira, Rufino Silva   +3 more
core   +1 more source

Genetic technology in the targeted therapy of Alport Syndrome [PDF]

Introduction 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.
Mandziuk, Anna, Kłusek, Magdalena, Sienkiewicz, Michał, Pawłowski, Bartosz   +3 more
core  

Alport syndrome—insights from basic and clinical research

, 2013
In 1927, Arthur C. Alport first published his description of a triad of symptoms in a family with hereditary congenital haemorrhagic nephritis, deafness and ocular changes.
Rubel, Diana, Oliver Gross, Jenny Kruegel, Diana Rubel, Gross, Oliver, Kruegel, Jenny   +5 more
core   +1 more source

Alport's syndrome.

Ear, nose, & throat journal, 1990
We review Alport's syndrome based on the description of seven members of a family whose disease was confirmed by percutaneous biopsy of renal specimens. The importance of genetic counseling and of the prophylaxis of hearing losses through cochlear protection is emphasized.
D, Catandi M di, J A, de Oliveira, R S, Costa   +2 more
openaire   +1 more source

Alport's Syndrome

Ear, Nose & Throat Journal, 1992
S P, Andreoli, M, Deaton
openaire   +2 more sources

Clinical, Pathological, and Genetic Characteristics of Patients with Digenic Alport Syndrome

Key Points: Patients with both COL4A3 and COL4A4 variants exhibited poor renal prognosis compared with those with autosomal dominant Alport syndrome. The proportion of patients with digenic Alport syndrome was 1.7% among all patients with Alport syndrome.
Tanaka, Yu, Ishimori, Shingo, Inoki, Yuta, Kitakado, Hideaki, ヤマムラ, トモヒコ, キタカド, ヒデアキ, 野津, 寛大, Ichikawa, Yuta, Sakakibara, Nana, 山村, 智彦, 堀之内, 智子, ホリノウチ, トモコ, Ueda, Chika, 上田, 知佳, イシモリ, シンゴ, 榊原, 菜々, Horinouchi, Tomoko, 石森, 真吾, 近藤, 淳, ノヅ, カンダイ, コンドウ, アツシ, Yamamura, Tomohiko, Nozu, Kandai, ナガノ, チナ, 北角, 英晶, 長野, 智那, ウエダ, チカ, Kondo, Atsushi, Nagano, China, サカキバラ, ナナ   +29 more
core   +1 more source

Alport syndrome

Kidney International, 1996
Kashtan, Clifford E., Michael, Alfred F.
openaire   +2 more sources

Autosomal Dominant Alport′s syndrome: Study of a Large Tunisian Family

Saudi Journal of Kidney Diseases and Transplantation, 2006
Alport′s syndrome is a hereditary nephritis that may lead to end-stage renal disease (ESRD) in early adult life. It is a clinically and genetically heterogeneous nephropathy. Alport′s syndrome is often associated with sensorineural deafness
Kharrat M, Makni S, Makni K, Kammoun K, Charfeddine K, Azaeiz H, Jarraya F, Hmida M, Gubler M, Ayadi H, Hachicha J   +10 more
doaj