Resumo

MORA-BAUTISTA, Víctor Manuel; SUAREZ-PINTO, Tatiana Alexandra  e  CONTRERAS-GARCIA, Gustavo Adolfo. Congenital nephrotic syndrome. Case report and review of its diagnostic work up. Rev. colom. nefrol. [online]. 2019, vol.6, n.2, pp.172-178. ISSN 2500-5006.  https://doi.org/10.22265/acnef.6.2.334.

A nephrotic syndrome is defined as the association of massive proteinuria, hypoalbuminemia and hyperlipidemia, which may be associated with edema and hypercoagulability. It originates from an abnormality of the glomerular filtration barrier with a massive protein leak and the consequent side effects. In its primary forms, it occurs with an incidence of 1 - 3 per 100,000 children under 16 years of age. The congenital form is a rare variant of the nephrotic syndrome, which occurs at birth or within the first three months of life and is usually resistant to corticosteroid therapy. Congenital infections and most common related monogenic diseases should be tested. Finally, new generation sequencing must be used to search for mutations in other candidate genes. We present the case of a girl with congenital nephrotic syndrome difficult to control, emphasizing the diagnostic process and support management. The importance of genetic counseling to the family in all cases is highlighted.

Palavras-chave : congenital nephrotic syndrome; corticosteroid therapy; congenital infections; monogenic diseases; genetic counseling.

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