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Obstetrics & Gynecology, 2007
Alport syndrome is a disorder associated with mutations in the type IV collagen gene and manifested by progressive glomerulonephritis. Little is known about the effect of Alport syndrome on pregnancy outcome.We report a patient with Alport syndrome whose pregnancy was complicated by rapidly progressive severe preeclampsia, fetal growth restriction, and
Koji, Matsuo +2 more
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Alport syndrome is a disorder associated with mutations in the type IV collagen gene and manifested by progressive glomerulonephritis. Little is known about the effect of Alport syndrome on pregnancy outcome.We report a patient with Alport syndrome whose pregnancy was complicated by rapidly progressive severe preeclampsia, fetal growth restriction, and
Koji, Matsuo +2 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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Kidney International, 2018 Studies suggest that altered renal lipid metabolism plays a role in the pathogenesis of diabetic kidney disease and that genetic or pharmacological induction of cholesterol efflux protects from the development of diabetic kidney disease and focal ...
Alla Mitrofanova +2 more
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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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1996
The severity of Alport’s syndrome can differ widely from individual to individual. This can be, in part, due to the way in which the disease is inherited. The type known as Fechtner syndrome (or Fechtner variant) is an example of this differing severity and mode of inheritance.
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The severity of Alport’s syndrome can differ widely from individual to individual. This can be, in part, due to the way in which the disease is inherited. The type known as Fechtner syndrome (or Fechtner variant) is an example of this differing severity and mode of inheritance.
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Alport Syndrome: Achieving Early Diagnosis and Treatment
American Journal of Kidney Diseases, 2021Clifford E Kashtan
exaly
Clinical and Genetic Features of Autosomal Dominant Alport Syndrome: A Cohort Study
American Journal of Kidney Diseases, 2021Mónica Furlano +2 more
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