Results 11 to 20 of about 5,335 (170)
Alport Syndrome Classification and Management
Kidney Medicine, 2020 Alport syndrome affects up to 60,000 people in the United States. The proposed reclassification of thin basement membrane nephropathy and some cases of focal segmental glomerulosclerosis as Alport syndrome could substantially increase the affected ...
Bradley A. Warady +7 more
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A case of concurrent Alport syndrome and Nail-patella syndrome posing diagnostic challenge without genetic testing [PDF]
BMC NephrologyHereditary glomerular basement membrane disease is a group of conditions caused by genetic mutations in the development and maintenance of the glomerular basement membrane.
Winston Wing-Shing Fung +5 more
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An Alport Syndrome Journey: From Powerless to Empowered – A Patient Perspective
Glomerular Diseases, 2023 As an Alport syndrome patient, caregiver, and executive director of Alport Syndrome Foundation, I am aware of the frequently challenging road in seeking an accurate diagnosis.
Lisa Bonebrake
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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
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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 +3 more
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“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 +2 more
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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 +11 more
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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 +4 more
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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 +13 more
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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 +5 more
openaire +3 more sources