Results 11 to 20 of about 12,421 (264)

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

Alport Syndrome: Clinical Spectrum and Therapeutic Advances

Kidney Medicine, 2023
Alport syndrome is a hereditary disorder characterized by kidney disease, ocular abnormalities, and sensorineural hearing loss. Work in understanding the cause of Alport syndrome and the molecular composition of the glomerular basement membrane ...
Vanessa De Gregorio, Emine Bilge Caparali, Azadeh Shojaei, Samantha Ricardo, Moumita Barua   +4 more
doaj   +1 more source

“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

Digenic Alport Syndrome

Clinical Journal of the American Society of Nephrology, 2022
Digenic Alport syndrome refers to the inheritance of pathogenic variants in COL4A5 plus COL4A3 or COL4A4 or in COL4A3 plus COL4A4. Where digenic Alport syndrome includes a pathogenic COL4A5 variant, the consequences depend on the sex of the affected individual, COL4A5 variant “severity,” and the nature of the COL4A3 or COL4A4 change.
Judy Savige, Alessandra Renieri, Elisabet Ars, Sergio Daga, Anna Maria Pinto, Hansjorg Rothe, Daniel P. Gale, Marina Aksenova, Agne Cerkauskaite, Olga Bielska, Beata Lipska-Zietkiewicz, Joel T. Gibson   +11 more
openaire   +5 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

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

Whole exome sequencing reveals novel COL4A3 and COL4A4 mutations and resolves diagnosis in Chinese families with kidney disease. [PDF]

, 2014
Collagen IV-related nephropathies, including thin basement membrane nephropathy and Alport Syndrome (AS), are caused by defects in the genes COL4A3, COL4A4 and COL4A5.
Bian, F, Gale, DP, Jiang, G, Lin, F, Lu, W, Shan, J, Wu, X, Yao, Y, Zou, J   +8 more
core   +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

Glomerular Basement Membrane Protein Expression and the Diagnosis and Prognosis of Autosomal Dominant Alport Syndrome

Kidney Medicine, 2019
Alport syndrome is a hereditary glomerular nephritis associated with hearing loss and eye abnormalities and is classified as X-linked Alport syndrome, autosomal recessive Alport syndrome, and autosomal dominant Alport syndrome.
Taro Akihisa, Masayo Sato, Yoshie Wakayama, Sekiko Taneda, Shigeru Horita, Orie Hirose, Shiho Makabe, Hiroshi Kataoka, Takayasu Mori, Eisei Sohara, Shinichi Uchida, Kosaku Nitta, Toshio Mochizuki   +12 more
doaj   +1 more source