Genetic testing and glomerular hematuria-A nephrologist's perspective.
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ABSTRACT:
SUBMITTER: Kashtan CE
PROVIDER: S-EPMC9796064 | biostudies-literature | 2022 Sep
REPOSITORIES: biostudies-literature
Publications
Genetic testing and glomerular hematuria-A nephrologist's perspective.
American journal of medical genetics. Part C, Seminars in medical genetics 20220701 3
Alport syndrome is an inherited disorder of the kidneys that results from variants in three collagen IV genes-COL4A3, COL4A4, and COL4A5. Early diagnosis and pharmacologic intervention can delay the progression of chronic kidney disease and the onset of kidney failure in patients with Alport syndrome. This article describes the evolution of approaches to the diagnosis and early treatment of Alport syndrome. ...[more]
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