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Nephrotic Syndrome in a Child with Alport Syndrome: A Case Report and Literature Review
Journal of Gandhara Medical and Dental Sciences: Alport syndrome is a disorder affecting basement membranes in the glomeruli, cochlea, and eyes due to mutations in collagen IV genes (COL4A3, COL4A4, COL4A5).
syed shah
doaj +1 more source
Progression of Alport Kidney Disease in Col4a3 Knock Out Mice Is Independent of Sex or Macrophage Depletion by Clodronate Treatment. [PDF]
PLoS ONE, 2015 Alport syndrome is a genetic disease of collagen IV (α3, 4, 5) resulting in renal failure. This study was designed to investigate sex-phenotype correlations and evaluate the contribution of macrophage infiltration to disease progression using Col4a3 ...
Munkyung Kim +8 more
doaj +1 more source
Simultaneous Bilateral Anterior and Posterior Lenticonus in Alport Syndrome [PDF]
Journal of Clinical and Diagnostic Research, 2017 Alport syndrome is an inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities like anterior lenticonus, corneal opacities, cataract, central perimacular and peripheral coalescing fleck retinopathies, and ...
Ravi Kant Bamotra +3 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
Frontiers in Genetics, 2022 Purpose: The study aimed to report a rare case of a patient with Alport syndrome, which was manifested as unilateral non-infectious uveitis after bilateral cataract surgery.Methods: A case report.Results: A 2-year-old boy was diagnosed with unilateral ...
Yu Tian +7 more
doaj +1 more source
Expert consensus guidelines for the genetic diagnosis of Alport syndrome. [PDF]
, 2018 peer reviewedRecent expert guidelines recommend genetic testing for the diagnosis of Alport syndrome. Here, we describe current best practice and likely future developments.
Gale, Daniel P. +17 more
core +3 more sources
Effect of Instructional Guidelines on Mothers' Knowledge and Stress Regarding their Children’s Alport Syndrome [PDF]
Egyptian Journal of Health CareBackground: Alport syndrome is defined as a genetic kidney illness that often leads to renal failure and gradually impairs kidney function. Some types of Alport syndrome can cause several negative outcomes, including mothers becoming more worried about ...
Mona Ibrahim Mohammed Abouzeid +4 more
doaj +1 more source
Bilateral anterior lenticonus associated with Alport syndrome
, 2021 Anterior lenticonus is a rare congenital anomaly of the eye characterized by a conical protrusion of the crystalline lens capsule and the underlying cortex in anterior chamber leading to high axial myopia; most cases are associated with Alport syndrome ...
Divyang Patel, Naurin Memon, Kavita Shah
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Pierson syndrome presenting as Alport syndrome: A case report [PDF]
, 2023 We report a 3 year 10 month old girl with Pierson syndrome. Kidney biopsy showed features suggestive of Alport syndrome. Genetic study report showed LAMB2 mutation which are considered to (Nephrotic syndrome, type 5 with or without ocular abnormalities ...
Samina Masud Santa +4 more
core +1 more source
Explaining Alport syndrome—lessons from the adult nephrology clinic [PDF]
\ua9 The Author(s) 2024. Alport syndrome is a genetic kidney disease that causes worsening of kidney function over time, often progressing to kidney failure.
Ryan R +4 more
core +4 more sources