Abstract

COURVILLE, Karen; SAMUDIO, Virginia Núñez  and  LANDIRES, Iván. Alportsyndrome: anupdate in pathophysiology, genetics, diagnosis, and treatment. Rev. nefrol. dial. traspl. [online]. 2021, vol.41, n.1, pp.81-90. ISSN 2346-8548.

Alportsyndromeis a renal hereditarydisease of progressivecourse, causedby geneticdefects in the genes responsible for the constitution of the glomerular basementmembrane. Mutation in genes fortype IV collagen occurs at COL 4A3/4/5, whichproducesinterference in thecorrectmembranearrangement. Clinicalpresentationmayvarydependingonmutationtype. Afterconfirming diagnosis, withgenetic studiesorbiopsies, managementincludesidentification of risk and treatment. Reduction of proteinuria, as managementguidelinessuggest, has resulted in delay in progressiontochronickidneydisease. In themeantime, studiesfor new treatmentdevelopments are in progress, directedtospecificreceptors.

Keywords : glomerular basementmembrane; microscopic hematuria; collagen; proteinuria.

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