Results 21 to 30 of about 12,421 (264)
Nepalese Journal of Ophthalmology, 1970 Alport syndrome is an oculo-renal syndrome characterized by a triad of clinical findings consisting of hemorrhagic nephritis, sensorineural hearing loss and characteristic ocular findings. We report a young male patient who presented with painless diminution of vision associated with hearing loss.
P, Karki, J K, Shrestha
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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 +3 more
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Loss of the BMP antagonist USAG-1 ameliorates disease in a mouse model of the progressive hereditary kidney disease Alport syndrome [PDF]
, 2010 腎不全治療の新しい可能性の発見－腎不全をきたす遺伝病、アルポート症候群はBMP阻害分子USAG-1欠損によって軽快し、腎不全に陥らない－. 京都大学プレスリリース. 2010-02-09. http://www.kyoto-u.ac.jp/ja/news_data/h/h1/news6/2009/100209_1.htmThe glomerular basement membrane (GBM) is a key component of the filtering unit in the kidney.
15392 +41 more
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American Journal of Ophthalmology Case Reports, 2020 Purpose: This report describes the rare case of a child with bilateral spontaneous anterior lens capsule ruptures as the presenting feature of Alport syndrome. Observations: The clinical presentation, special investigations and surgical management of the
Dian Petrus van der Westhuizen +1 more
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Collagen Type IV-Related Nephropathies in Portugal: Pathogenic COL4A5 Mutations and Clinical Characterization of 22 Families [PDF]
, 2014 Alport syndrome (AS) is caused by pathogenic mutations in the genes encoding α3, α4 or α5 chains of collagen IV (COL4A3/COL4A4/COL4A5), resulting in hematuria, chronic renal failure (CRF), sensorineural hearing loss (SNHL) and ocular abnormalities ...
Alves, R +31 more
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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
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Ocular manifestation of the Alport syndrome: A case report
Muller Journal of Medical Sciences and Research, 2015 The Alport syndrome is a rare genetic disorder characterized by hematuria, sensorineural deafness, and ocular manifestations. The Alport syndrome accounts for 0.3 to 2.3% of end-stage kidney disease in young males and children.
Ayyakutty Muni Raja +3 more
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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
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Outcomes of kidney transplantation in Alport syndrome compared with other forms of renal disease
Renal Failure, 2017 Introduction: Alport syndrome is an inherited renal disease characterized by hematuria, renal failure, hearing loss and a lamellated glomerular basement membrane.
Yvelynne P. Kelly +10 more
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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
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