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2021, Number 1

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Rev Nefrol Dial Traspl 2021; 41 (1)

Alport Syndrome: Update in Pathophysiology, Genetics, Diagnosis, and Treatment

Courville K, Núñez-Samudio V, Landires I

Language: Spanish
References: 52
Page: 62-71
PDF size: 384.58 Kb.


ABSTRACT

Alport syndrome is a renal hereditary disease of progressive course, caused by genetic defects in the genes responsible for the constitution of the glomerular basement membrane. Mutation in genes for type IV collagen occurs at COL 4A3/4/5, which produces interference in the correct membrane arrangement. Clinical presentation may vary depending on mutation type. After confirming diagnosis, with genetic studies or biopsies, management includes identification of risk and treatment. Reduction of proteinuria, as management guidelines suggest, has resulted in delay in progression to chronic kidney disease. In the meantime, studies for new treatment developments are in progress, directed to specific receptors.


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