Results 21 to 30 of about 1,147,808 (181)

Tale of two nephropathies; co-occurring Alport syndrome and IgA nephropathy, a case report

BMC Nephrology, 2021
Background Alport Syndrome and IgA Nephropathy (IgAN) are both disorders that can cause hematuria. Alport syndrome is most commonly an X-linked disease, caused by COL4A5 mutation. Mutations of COL4A3 and COL4A4 on chromosome two are also common causes of
Aniruddha Bhattacharyya, Yuting Huang, Sarah Hussain Khan, Cinthia Beskow Drachenberg, Laura C. Malone   +4 more
doaj   +1 more source

Co-creation of practical “how-to guides” for patient engagement in key phases of medicines development—from theory to implementation

Research Involvement and Engagement, 2021
Background The effective impact of patient engagement (PE) across the medicines development continuum is widely acknowledged across diverse health stakeholder groups, including health authorities; however, the practical applications of how to implement ...
David Feldman, Paola Kruger, Laure Delbecque, Ashley Duenas, Oana Bernard-Poenaru, Séverine Wollenschneider, Nick Hicks, Janine Ann Reed, Ify Sargeant, Chi Pakarinen, Anne-Marie Hamoir, on behalf of Patient Focused Medicines Development Working Groups 1, on behalf of Patient Focused Medicines Development Working Groups 2A, on behalf of Patient Focused Medicines Development Working Groups 2B   +13 more
doaj   +1 more source

Alport's Syndrome in Pregnancy [PDF]

Case Reports in Medicine, 2013
Background. Alport's syndrome is an X-linked hereditary disorder affecting the glomerular basement membrane associated with ocular and hearing defects. In women, the disease is much less severe compared to that in men. However, women with Alport's syndrome can have an accelerated form of their disease during pregnancy with worsening of kidney function ...
Suchita Mehta, Chadi Saifan, Marie Abdellah, Rita Choueiry, Rabih Nasr, Suzanne El-Sayegh   +5 more
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

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

The importance of clinician, patient and researcher collaborations in Alport syndrome [PDF]

, 2019
Alport syndrome is caused by mutations in the genes COL4A3, COL4A4 or COL4A5 and is characterised by progressive glomerular disease, sensorineural hearing loss and ocular defects.
Weinstock, André, Parziale, G, Judith Savige, Miner, JH, Randles, Michael, Rheault, MN, Susie Gear, Rheault, Michelle N., Frances A Flinter, Flinter, Frances A, Melissa Stepney, Gina Parziale, Jeffrey H Miner, Turner, A. Neil, Lagas, Sharon, Randles, MJ, Rheault, Michelle N, Oliver Gross, Rachel Lennon, Lennon, Rachel, Randles, Michael J, André Weinstock, Gross, O, Gear, Susie, Flinter, Frances A., Savige, J, Lagas, S, Sharon Lagas, Weinstock, A, Miner, Jeffrey H., A Neil Turner, Michelle N. Rheault, Gross, Oliver, Lennon, Rachel; id_orcid, Randles, Michael J., Turner, AN, Gear, S, Miner, Jeffrey H, Stepney, Melissa, Michael J. Randles, Parziale, Gina, Flinter, FA, Savige, Judith, Stepney, M, Turner, Neil, Turner, A Neil, Lennon, R   +46 more
core   +1 more source

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

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

Missing Internal Limiting Membrane during Macular Hole Repair in Alport Syndrome

Case Reports in Ophthalmology, 2021
The aim of this manuscript is to describe a novel retinal finding of Alport syndrome during surgical management of an associated macular hole. A retrospective chart review of a 65-year-old man with a diagnosis of Alport syndrome confirmed by renal biopsy
Sarah G. Chaudhry, Gerald Liew, Adrian T. Fung   +2 more
doaj   +1 more source