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Revista de la Facultad de Medicina

versão impressa ISSN 0120-0011

Resumo

URREGO-DIAZ, José Augusto; LANDINEZ-MILLAN, Guillermo  e  LOZANO-TRIANA, Carlos Javier. Alport sindrome: Case report and literature review. rev.fac.med. [online]. 2015, vol.63, n.1, pp.143-149. ISSN 0120-0011.  https://doi.org/10.15446/revfacmed.v63n1.45007.

We present the case of a 4 year-old girl patient, with an asymptomatic dizygotic twin brother, child of non-consanguineous parents and with no family history of renal disease. Her clinical picture started with edema and severe proteinuria as manifestations of a minimal change nephrotic syndrome that was diagnosed by renal biopsy and initially treated with steroids. Her clinical course was complicated by multiple relapses that classified her as a patient presenting a steroid-resistant nephrotic syndrome, her treatment was changed and a second renal biopsy was needed. Histology outcome of biopsy surprised the treating medical group because changes in glomerular basal membrane revealed that it was in fact an Alport syndrome.

Palavras-chave : Nephritis; hereditary; Hematuria; Proteinuria; Alport Syndrome.

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