Results 21 to 30 of about 5,335 (170)

Alport's Syndrome

Ear, Nose & Throat Journal, 1992
Every nephrologist knows what Alport’s syndrome is, but no one can define it to the satisfaction of all. Cecil Alport emphasized the association of deafness with nephritis in the family he studied (1). In deference to his contribution, Alport’s syndrome commonly denotes hereditary hematuric nephritis with deafness.
S P, Andreoli, M, Deaton
openaire   +3 more sources

Generation of the induced pluripotent stem cell line (NCKDi004-A) from a 17-year-old patient with Alport syndrome carrying a homozygous mutation in COL4A3 gene

Stem Cell Research, 2021
Alport syndrome is the second most common genetic renal disease which caused by mutations in COL4A3/COL4A4/COL4A5, according to different modes of inheritance.
Hangdi Wu, Gang Wang, Erzhi Gao, Li Zhang, Yuqing Zhu, Jin Zhang, Zhihong Liu   +6 more
doaj   +1 more source

Alport syndrome

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   +3 more sources

Alport's syndrome

Kathmandu University Medical Journal, 2010
Alport's syndrome (Haemorrhagic Familial Nephritis) is a rare syndrome. It encompasses a group of heterogeneously inherited disorders involving the basement membrane of the kidney frequently involving the cochlea and the eye. We describe here the detailed ocular findings and the systemic problems of a case of Alport's syndrome in a 30 years male from ...
P, Bastola, S N, Joshi, M, Chaudhary, D N, Shah   +3 more
openaire   +3 more sources

Bilateral spontaneous anterior lens capsule ruptures in a child: A rare presentation of Alport syndrome

American Journal of Ophthalmology Case Reports, 2020
Purpose: This report describes the rare case of a child with bilateral spontaneous anterior lens capsule ruptures as the presenting feature of Alport syndrome. Observations: The clinical presentation, special investigations and surgical management of the
Dian Petrus van der Westhuizen, Kelsey Vernon Stuart   +1 more
doaj   +1 more source

Effect of Social-Platform Instructional Guidelines on Pediatric Mothers'Knowledge and Anxiety regarding Alport Syndrome [PDF]

Egyptian Journal of Health Care
Background: Alport syndrome is a hereditary kidney disease that gradually deteriorates kidney function and frequently leads to renal failure. A multitude of detrimental effects, such as mothers becoming more concerned and anxious about their children's ...
Boshra Attia Mohammed, Azza Ibrahim Abdelraof, Manal Mohamed Ahmed Ayed, Amira Mohammed Saad Khalil, Nesma Ahmed Kamel, Samya Mohamed Ahmed Hegazy   +5 more
doaj   +1 more source

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, Siddharam S Janti, Adnan Matheen, Charanya Chendilnathan   +3 more
doaj   +1 more source

Outcomes of kidney transplantation in Alport syndrome compared with other forms of renal disease

Renal Failure, 2017
Introduction: Alport syndrome is an inherited renal disease characterized by hematuria, renal failure, hearing loss and a lamellated glomerular basement membrane.
Yvelynne P. Kelly, Anish Patil, Luke Wallis, Susan Murray, Saumitra Kant, Mohammed A. Kaballo, Liam Casserly, Brendan Doyle, Anthony Dorman, Patrick O’Kelly, Peter J. Conlon   +10 more
doaj   +1 more source

Shining a Light on Alport Syndrome [PDF]

Cell Chemical Biology, 2018
In this issue of Cell Chemical Biology, Omachi et al. (2018) present a split Nanoluciferase system to identify successful protein trimerization in Alport syndrome. This elegant proof of concept suggests opportunities for drug screening for Alport syndrome and may be transferable to the study of other diseases affecting protein-protein interactions.
Hale, Lorna J., Little, Melissa H.
openaire   +4 more sources

"Preliminary Report: EVIDENCE OF AUTOSOMAL RECESSIVE FORM OF ALPORT SYNDROME IN IRAN " [PDF]

Iranian Journal of Public Health, 1993
Alport syndrome is a progressive hereditary nephritis leading to renal failure. Nearly all of the documents declare that Alport syndrome is inherited as X-linked dominant trait and reports of autosomal inheritance form is very rare.
D.D. Farhud; T.Rezaie Jami; M.R. Khosh-sorour; M. Islami; B.Broumand
doaj   +2 more sources