Results 21 to 30 of about 6,803 (205)

What patients want to know about genetic testing for kidney disease

Frontiers in Medicine, 2023
Previously, genetic kidney disease was often recognised when family members shared clinical features. Now, many genetic kidney diseases are diagnosed when testing demonstrates a pathogenic variant in a gene associated with the disease.
Judy Savige, B. André Weinstock
doaj   +1 more source

Clinical, Pathological and Genetic Analysis of Alport Syndrome in Children

罕见病研究, 2022
Objective To explore the phenotype-genotype correlation of Alport syndrome in children. Methods Retrospectively analyze the clinical and pathological features of 55 patients with Alport syndrome with COL4A mutations detected by second-generation ...
NI Jie, CHEN Zhi, LING Chen, LIU Xiaorong   +3 more
doaj   +1 more source

The 2014 International Workshop on Alport Syndrome [PDF]

, 2014
Alport syndrome, historically referred to as hereditary glomerulonephritis with sensorineural deafness and anterior lenticonus, is a genetic disease of collagen α3α4α5(IV) resulting in renal failure.
Gale, Daniel P., Kashtan, Clifford E., Prunotto, Marco, Judith Savige, Blatt, Dave, Susie Gear, Marco Prunotto, Julian P. Midgley, Sue Povey, A. Neil Turner, Povey, Sue, Daniel P. Gale, Lagas, Sharon, Turner, A. Neil, Oliver Gross, Daniel Renault, Jie Ding, Gear, Susie, Dave Blatt, Renault, Daniel, Jeffrey H. Miner, Sharon Lagas, Judge, Parminder, Ding, Jie, Colin Baigent, Jules Skelding, Miner, Jeffrey H., Frances Flinter, Gross, Oliver, Clifford E. Kashtan, Baigent, Colin, Skelding, Jules, Parminder Judge, Midgley, Julian P., Flinter, Frances, Savige, Judith, Turner, A Neil   +36 more
core   +4 more sources

“Blink and you'll miss it”- A case report of Alport syndrome

Journal of Clinical Ophthalmology and Research, 2023
Alport syndrome is a rare disorder of abnormal type IV collagen affecting basement membranes of the glomerulus, cochlea, and ocular structures. A young male presenting with characteristic ocular signs as well as systemic manifestations of Alport syndrome.
Faiza Syed Jafar, Alhaj Farhath Tasneem, Vittal Nayak   +2 more
doaj   +1 more source

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

Severe restless legs syndrome in a family with Alport syndrome [PDF]

, 2021
Background Restless legs syndrome (RLS) is a common sleep-related movement disorder characterized by an urge to move the legs during inactivity, especially at evening-night.
Andrea Rinaldi, Raffaele Ferri, Davide Sparasci, Mauro Manconi, Sparasci, Davide, Pietro Cippà, Cippà, Pietro, Manconi, Mauro, Rossinelli, Andrea, Ferri, Raffaele, Rinaldi, Andrea, Andrea Rossinelli   +11 more
core   +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

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

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'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