Results 31 to 40 of about 5,335 (170)
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 +2 more
doaj +1 more source
Case Report: Preimplantation Genetic Testing and Pregnancy Outcomes in Women With Alport Syndrome
Frontiers in Genetics, 2021 BackgroundAlport syndrome, a monogenic kidney disease, is characterized by progressive hemorrhagic nephritis, sensorineural hearing loss, and ocular abnormalities.
Wei-Hui Shi +25 more
doaj +1 more source
Women and Alport syndrome [PDF]
Pediatric Nephrology, 2011 X-linked Alport syndrome (XLAS) is caused by mutations in type IV collagen causing sensorineural hearing loss, eye abnormalities, and progressive kidney dysfunction that results in near universal end-stage renal disease (ESRD) and the need for kidney transplantation in affected males.
openaire +2 more sources
A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome. [PDF]
PLoS ONE, 2015 Alport syndrome is a genetic condition that results in hematuria, progressive renal impairment, hearing loss, and occasionally lenticonus and retinopathy.
Barshagul T Baikara +5 more
doaj +1 more source
Sporadic Case of Heterozygous X-linked Alport Syndrome
Glomerular Diseases, 2023 Background: Alport syndrome is a genetically and phenotypically heterogeneous disorder that can be transmitted in an X-linked, autosomal recessive, or autosomal dominant fashion and can affect glomerular, cochlear, and ocular basement membranes.
Jonathan Zuckerman, Rachana Srivastava
doaj +1 more source
, 2018 Alport syndrome is a multisystem disorder including progressive renal disease, sensorineural deafness, and eye abnormalities. The high risk of cardiovascular pathology in patients with Alport syndrome was also described recently. The syndrome is caused by mutations in COL4A3, COL4A4, and COL4A5 genes, which lead to defects in glomerular filtration ...
Aksenova, Marina, Shagam, Lev
openaire +3 more sources
A family with Alport’s syndrome [PDF]
Postgraduate Medical Journal, 1970 SummaryAlport’s syndrome has been diagnosed in members of four successive generations of one family.Renal biopsy was performed in two of these patients. The syndrome is briefly reviewed.
openaire +2 more sources
Case report: A case report of Alport syndrome caused by a novel mutation of COL4A5
Frontiers in Genetics, 2023 Alport syndrome (#308940) is an X-linked genetic disease with clinical manifestations, such as hematuria, proteinuria, renal insufficiency, and end-stage renal disease.
Shujun Pan, Rizhen Yu, Shikai Liang
doaj +1 more source
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
Advanced Science, EarlyView.Mesenchymal stromal cells (MSCs) show promise for treating immune‐related disorders through immunomodulation and tissue regeneration. This review gives a brief overview of current clinical approval of MSC therapies. It also discussed how bioengineering, including genetic modification, biomaterial delivery, extracellular vesicles, and iPSC‐derived MSCs,
Sichen Yang +6 more
wiley +1 more source