SciELO - Scientific Electronic Library Online

 
vol.6 issue2Bacteriemia associated with a catheter tunneled by Chryseobacterium indologenes, in a hemodialysis patientRecommendations for the rational use of the 25-hydroxyvitamin D test Policy Brief author indexsubject indexarticles search
Home Pagealphabetic serial listing  

Services on Demand

Article

Indicators

Related links

  • On index processCited by Google
  • Have no similar articlesSimilars in SciELO
  • On index processSimilars in Google

Share


Revista Colombiana de Nefrología

On-line version ISSN 2500-5006

Abstract

MORA-BAUTISTA, Víctor Manuel; SUAREZ-PINTO, Tatiana Alexandra  and  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.  http://dx.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.

Keywords : congenital nephrotic syndrome; corticosteroid therapy; congenital infections; monogenic diseases; genetic counseling.

        · abstract in Spanish     · text in Spanish     · Spanish ( pdf )