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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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Alport's syndrome and achalasia
Pediatric Nephrology, 1988A 7-year-old boy presented with a history of postprandial vomiting, failure to thrive, hematuria, proteinuria and decreased renal function. Electron microscopy of a renal biopsy specimen demonstrated the typical glomerular basement membrane changes associated with Alport's syndrome.
H E, Leichter +4 more
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Acta Pathologica Japonica, 1974
A 19‐year‐old female belonging to a family of Alport's syndrome was autopsied and her kidneys were examined in detail light and electron microscopically. The basement membrane was examined chiefly and the laminated thickening and/or splitting, looseness, irregularity and rail‐like appearance of lamina densa were found in the glomerular, Bowman's ...
I, Nishimori +3 more
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A 19‐year‐old female belonging to a family of Alport's syndrome was autopsied and her kidneys were examined in detail light and electron microscopically. The basement membrane was examined chiefly and the laminated thickening and/or splitting, looseness, irregularity and rail‐like appearance of lamina densa were found in the glomerular, Bowman's ...
I, Nishimori +3 more
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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
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Pediatric Nephrology, 1987
Variants of Alport's syndrome include mainly those associated with hereditary macrothrombocytopenia (and occasionally leukocyte inclusions) or with esophageal, tracheobronchial and genital leiomyomatosis. Within Alport's syndrome there appears to be no justification for differentiating those with nephritis and deafness from those with nephritis alone ...
J P, Grünfeld +6 more
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Variants of Alport's syndrome include mainly those associated with hereditary macrothrombocytopenia (and occasionally leukocyte inclusions) or with esophageal, tracheobronchial and genital leiomyomatosis. Within Alport's syndrome there appears to be no justification for differentiating those with nephritis and deafness from those with nephritis alone ...
J P, Grünfeld +6 more
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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
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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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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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Folia medica Neerlandica, 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.
G A, FEHMERS, R, CROUGHS
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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.
G A, FEHMERS, R, CROUGHS
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