Alport syndrome: deducing the mode of inheritance from the presence of haematuria in family members
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DOI: 10.1007/s00467-018-4121-1
Abstract: The diagnosis of Alport syndrome is suspected when an individual has haematuria or renal failure, together with a hearing loss; haematuria or renal failure, and a family history of Alport syndrome; or a pathognomonic Alport… read more here.
Keywords: alport syndrome; alport; family members; inheritance ... See more keywords
Hydroxypropyl-β-cyclodextrin protects from kidney disease in experimental Alport syndrome and focal segmental glomerulosclerosis.
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DOI: 10.1016/j.kint.2018.06.031
Abstract: 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… read more here.
Keywords: alport syndrome; alport; focal segmental; kidney disease ... See more keywords
It is an Alport syndrome, not a simple hypertensive retinopathy
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DOI: 10.4103/ijo.ijo_426_18
Abstract: Alport syndrome is a rare inherited disease characterized by progressive renal failure, hearing loss, and ocular abnormalities.[1] It is caused by mutations in type IV collagen. The progressive damage to the basement membrane containing mutated… read more here.
Keywords: syndrome simple; alport; hypertensive retinopathy; alport syndrome ... See more keywords