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About 48 results

ALLMedicine™ Autosomal Recessive Alport Syndrome Center

Research & Reviews  19 results

Ultrastructural and immunofluorescence analysis of anterior lens capsules in autosomal ...
https://doi.org/10.1080/13816810.2020.1852575
Ophthalmic Genetics; Zhou J, Wu J et. al.

Dec 1st, 2020 - Background: To first report and study the ultrastructural and immunofluorescence abnormalities of the lens anterior capsules in a patient with autosomal recessive Alport syndrome.Methods: Two anterior lens capsules were collected in femtosecond la...

Clinical practice recommendations for the diagnosis and management of Alport syndrome i...
https://doi.org/10.1007/s00467-020-04819-6
Pediatric Nephrology (Berlin, Germany); Kashtan CE, Gross O

Nov 8th, 2020 - In 2013, we published a set of clinical practice recommendations for the treatment of Alport syndrome in this journal. We recommended delaying the initiation of angiotensin-converting enzyme inhibition until the onset of overt proteinuria or, in s...

Successful renal transplantation in a family with a novel mutation in COL4A3 gene and a...
https://doi.org/10.1111/nep.13693
Nephrology (Carlton, Vic.); Girimaji N, Murugan Sm S et. al.

Jan 12th, 2020 - Alport syndrome (AS) is an inherited disorder of basement membranes caused by mutations affecting specific proteins of the type IV collagen family, presenting with nephropathy and extrarenal manifestations such as sensorineural deafness and ocular...

Autosomal Recessive Alport Syndrome Unveiled by Pregnancy.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7082947
Nephron Drury ER, Stillman IE et. al.

Aug 14th, 2019 - Alport syndrome is a hereditary disease affecting Type IV collagen characterized by hematuria, progressive renal failure, sensorineural hearing loss, and ocular abnormalities. Most cases are X-linked and involve the COL4A5 gene with a minority of ...

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