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Advances in Kidney Disease and Health
Alport syndrome (AS) is characterized by progressive kidney failure, hematuria, sensorineural hearing loss, and ocular abnormalities. Pathogenic variants in the COL4A3-5 genes result in a defective deposition of the collagen IV α3α4α5 protomers in the basement membranes of the glomerulus in the kidney, the cochlea in the ear and the cornea, lens ...
Efren Chavez +3 more
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Alport syndrome (AS) is characterized by progressive kidney failure, hematuria, sensorineural hearing loss, and ocular abnormalities. Pathogenic variants in the COL4A3-5 genes result in a defective deposition of the collagen IV α3α4α5 protomers in the basement membranes of the glomerulus in the kidney, the cochlea in the ear and the cornea, lens ...
Efren Chavez +3 more
openaire +2 more sources
Clinical Eye and Vision Care, 2000
Alport syndrome, a hereditary nephritis accompanied by high-tone sensorineural deafness and distinctive ocular signs was first noted in the literature during the early 1900s. This disease is caused by a genetic defect in Type IV collagen which makes up basement membranes in many body systems.
, McCarthy, , Maino
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Alport syndrome, a hereditary nephritis accompanied by high-tone sensorineural deafness and distinctive ocular signs was first noted in the literature during the early 1900s. This disease is caused by a genetic defect in Type IV collagen which makes up basement membranes in many body systems.
, McCarthy, , Maino
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Pediatric Nephrology, 1987
The pattern of inheritance of Alport's syndrome has been controversial for some time. Recent studies have clarified the mode of inheritance in this disease. Alport's syndrome is a heterogeneous disorder made up of a number of genetically distinct syndromes, with an autosomal dominant, an X-linked dominant and a rare autosomal recessive form.
J, Feingold, E, Bois
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The pattern of inheritance of Alport's syndrome has been controversial for some time. Recent studies have clarified the mode of inheritance in this disease. Alport's syndrome is a heterogeneous disorder made up of a number of genetically distinct syndromes, with an autosomal dominant, an X-linked dominant and a rare autosomal recessive form.
J, Feingold, E, Bois
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International Journal of Nursing Education and Research, 2021
Alport syndrome (AS) is a type IV collagen hereditary disease characterized by the association of progressive Hematuric nephritis, hearing loss, and, frequently, ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease.
Karpagam J., Pandimeena. P
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Alport syndrome (AS) is a type IV collagen hereditary disease characterized by the association of progressive Hematuric nephritis, hearing loss, and, frequently, ocular changes. Mutations in the COL4A5 collagen gene are responsible for the more common X-linked dominant form of the disease.
Karpagam J., Pandimeena. P
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Journal of biological regulators and homeostatic agents, 2019
Alport's syndrome (AS, OMIM 301050) is a hereditary disorder characterized by progressive renal failure, hearing impairment and ocular changes. It is clinically and genetically heterogeneous and in its natural history, renal disease progresses from microscopic haematuria to proteinuria, and finally to progressive renal insufficiency. AS is caused by an
Bruni, V +14 more
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Alport's syndrome (AS, OMIM 301050) is a hereditary disorder characterized by progressive renal failure, hearing impairment and ocular changes. It is clinically and genetically heterogeneous and in its natural history, renal disease progresses from microscopic haematuria to proteinuria, and finally to progressive renal insufficiency. AS is caused by an
Bruni, V +14 more
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Current Opinion in Nephrology & Hypertension
Purpose of review The recent widespread availability of genetic testing has resulted in the diagnosis of many more people with Alport syndrome. This increased recognition has been paralleled by advances in understanding clinical consequences, genotype-phenotype correlations and in the development of new therapies.
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Purpose of review The recent widespread availability of genetic testing has resulted in the diagnosis of many more people with Alport syndrome. This increased recognition has been paralleled by advances in understanding clinical consequences, genotype-phenotype correlations and in the development of new therapies.
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Vnitrni lekarstvi, 1994
After a historical introduction the authors analyze contemporary views on the aetiology, pathogenesis and genetics, they characterize the clinical picture and histopathological findings in Alport's syndrome. They emphasize that Alport's syndrome is more frequent than generally reported and that it deserves therefore appropriate attention in the ...
T, Papajík, J, Zadrazil, P, Bachleda
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After a historical introduction the authors analyze contemporary views on the aetiology, pathogenesis and genetics, they characterize the clinical picture and histopathological findings in Alport's syndrome. They emphasize that Alport's syndrome is more frequent than generally reported and that it deserves therefore appropriate attention in the ...
T, Papajík, J, Zadrazil, P, Bachleda
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Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study
American Journal of Kidney Diseases, 2021Roser Torra +2 more
exaly
Alport Syndrome: Achieving Early Diagnosis and Treatment
American Journal of Kidney Diseases, 2021Clifford Kashtan
exaly