Results 141 to 150 of about 23,214 (166)

BILATERAL MACULAR RETINOSCHISIS IN A PATIENT WITH X-LINKED ALPORT SYNDROME

RETINAL Cases & Brief Reports, 2012
To report a case of bilateral macular retinoschisis in a patient with X-linked Alport syndrome.Observational case report. A 57-year-old woman with X-linked Alport syndrome who presented with bilateral macular retinoschisis, which was demonstrated by high-resolution optical coherence tomography.The patient's visual acuity was only mildly decreased, and ...
Elad, Moisseiev, Adiel, Barak
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Germline mosaicism is a pitfall in the diagnosis of “sporadic” X-linked Alport syndrome

Journal of Nephrology, 2018
Approximately 80% of patients with Alport syndrome have X-linked Alport syndrome (XLAS), which is caused by mutations in the type IV collagen alpha 5 gene (COL4A5). In patients with XLAS, approximately 10-15% of COL4A5 mutations occur as spontaneous events. Here, we describe maternal germline mosaicism in a family of XLAS patients.
Takayuki Okamoto, Kandai Nozu, Kazumoto Iijima, Tadashi Ariga   +3 more
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Gene expression analysis in a canine model of X-linked Alport syndrome

Mammalian Genome, 2006
Chronic kidney disease (CKD) often culminates in renal failure as a consequence of progressive interstitial fibrosis and is an important cause of illness and death in dogs. Identification of disease biomarkers and gene expression changes will yield valuable information regarding the specific biological pathways involved in disease progression.
Kimberly A, Greer, Marnie A, Higgins, Melissa L, Cox, Timothy P, Ryan, Brian R, Berridge, Clifford E, Kashtan, George E, Lees, Keith E, Murphy   +7 more
openaire   +2 more sources

The use of ocular abnormalities to diagnose X-linked Alport syndrome in children

Pediatric Nephrology, 2008
The diagnosis of X-linked Alport syndrome is often difficult, but the demonstration of lenticonus and retinopathy may facilitate the diagnosis in adult patients. The aim of this study was to determine the diagnostic usefulness of ocular examination in children.
Ke Wei, Zhang, Deb, Colville, Rachel, Tan, Colin, Jones, Stephen I, Alexander, Jeffrey, Fletcher, Judy, Savige   +6 more
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Genetic cause of X-linked Alport syndrome in a family of domestic dogs

Mammalian Genome, 2003
Alport syndrome is a hereditary disease of type IV (basement membrane) collagens that occurs spontaneously in humans and dogs. In the human, X-linked Alport syndrome (XLAS) is caused by mutations in COL4A5, resulting in absence of type IV collagen alpha5 chains from the glomerular basement membrane (GBM) of affected individuals. The consequence of this
Melissa L, Cox, George E, Lees, Clifford E, Kashtan, Keith E, Murphy   +3 more
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Corneal endothelial neovascularization and glaucoma in X-linked Alport syndrome

European Journal of Ophthalmology
Introduction Variants in COL4A5 are responsible for X-linked Alport syndrome. It is characterized by kidney disease, sensorineural hearing loss and variable ocular abnormalities.
Lin Zhou, Yao Zhang, Chaohua Tian, Jinying Liao, Houjue Yu, Li Tang   +5 more
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A novel G472R mutation in a Turkish family with X-linked Alport syndrome

Pediatric Nephrology, 2000
Alport syndrome (AS) is a hereditary disorder of progressive nephritis. Most cases are X-linked, but autosomal forms have been reported. The X-linked form is associated with mutations in the COL4A5 gene that encodes the alpha 5 chain of type IV collagen. More than 200 mutations have been reported in X-linked AS.
Topaloglu, R, Plant, K E, Flinter, F
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Resolution of proteinuria in a patient with X-linked Alport syndrome treated with cyclosporine

Scandinavian Journal of Urology and Nephrology, 2006
We report a 9-year-old Icelandic male with Alport syndrome and nephrotic-range proteinuria who responded well to cyclosporine therapy. He presented at the age of 2 years with gross hematuria and proteinuria during an episode of upper respiratory tract infection. Three years later he had developed persistent proteinuria; kidney function was normal.
Thorir Svavar, Sigmundsson, Runolfur, Palsson, Sverrir, Hardarson, Vidar, Edvardsson   +3 more
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Detection of mutations in theCOL4A5gene by SSCP in X-linked Alport syndrome

Human Mutation, 2001
Alport syndrome is a progressive renal disease leading to chronic renal failure, which often is accompanied by sensorineural deafness and ophthalmological signs in the form of anterior lenticonus. The X-linked form of the disease is caused by mutations in the COL4A5 gene encoding the alpha5-chain of type IV-collagen.
Hertz, J.M., Juncker, I., Persson, U., Matthijs, G., Schmidtke, J., Petersen, M.B., Kjeldsen, M., Gregersen, N.   +7 more
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X-linked Alport syndrome with “empty capsule sign”

Kidney International, 2020
Satoru Kudose, Ibrahim Batal, Cynthia D’Alessandri-Silva, Fangming Lin, Vivette D. D’Agati, Glen S. Markowitz   +5 more
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