Congenital nephrotic syndrome. Case report and review of its diagnostic work up
PDF (Español)
HTML (Español)

Supplementary Files

Página de título (Español)
Carta al editor (Español)
CONSENTIMIENTO INFORMADO (Español)

Keywords

congenital nephrotic syndrome, corticosteroid therapy, congenital infections, monogenic diseases, genetic counseling.

How to Cite

1.
Mora Bautista VM, Suárez - Pinto TA, Contreras-García GA. Congenital nephrotic syndrome. Case report and review of its diagnostic work up. Rev. Colomb. Nefrol. [Internet]. 2019 May 8 [cited 2024 Mar. 29];6(2):172-8. Available from: https://revistanefrologia.org/index.php/rcn/article/view/334

Abstract

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.

https://doi.org/10.22265/acnef.6.2.334
PDF (Español)
HTML (Español)

References

Román-Ortiz E. Síndrome nefrótico pediátrico. Protoc diagn ter pediatr. 2014;1:285-301.

Avni EF, Vandenhoute K, Devriendt A, Ismaili K, Hackx M, Janssen F, et al. Update on congenital nephrotic syndromes and the contribution of US. Pediatr Radiol. 2011;41(1):76-81. https://doi.org/10.1007s00247-010-1793-5

Wang J-J, Mao J-H. The etiology of congenital nephrotic syndrome: current status and challenges. World J Pediatr. 2016;12(2):149-58. https://doi.org/10.1007/s12519-016-0009-y

Mulić B, Miloševski-Lomić G, Paripović D, Kruščić D, Mulić M, Peco-Antić A. Congenital nephrotic syndrome may respond to cyclosporine a - a case report and review of literature. Srp Arh Celok Lek. 2017;145(7-8):407-10. https://doi.org/ 10.2298/ SARH160907070M

Oliveros Andrade OA, Endo J. Síndrome nefrótico congénito. PRECOP - CCAP. 2018;17(3):11-24. 6. Niaudet P. Congenital and infantle nephrotic syndrome. Curr Paediatr. 2006;16(4):264-8.

Niaudet P. Congenital nephrotic syndrome. In: Elzouki AY, Harfi HA, Nazer HM, Stapleton FB, Oh W, Whitley RJ, editors. Textbook of Clinical Pediatrics. Berlin, Heidelberg: Springer Berlin Heidelberg; 2012. p. 2793-8. Disponible en: http://link.springer.com/10.1007/978-3-642-02202-9

Fanni C, Loddo C, Faa G, Ottonello G, Puddu M, Fanos V. Congenital nephrotic syndrome. J Pediatr Neonatal Individ Med. 2014;3(2):1-8.

Cobos-Carrascosa E, Campos-Aguilera A, Daza-Torres A. Multigene involvement in congenital nephrotic syndrome. Nefrologia. 2014;34(2):268-70. https://doi.org/10.3265/Nefrologia.pre2014

Groopman EE, Rasouly HM, Gharavi AG. Genomic medicine for kidney disease. Nat Rev Nephrol. 2018;14(2):83-104. https://doi.org/10.1038/nrneph.2017.167

Soares SF da S, Donatti TL, Souto FJD. Serological Markers of Viral, Syphilitic and Toxoplasmic Infection in Children and Teenagers With Nephrotic Syndrome: Case Series From Mato Grosso State, Brazil. Rev Inst Med Trop Sao Paulo. 2014;56(6):499-504. http://dx.doi.org/10.1590/S0036-46652014000600008

Lau KK, Chan HH, Massicotte P, Chan AK. Thrombotic complications of neonates and children with congenital nephrotic syndrome. Curr Pediatr Rev. 2014;10(3):169-76.

Büscher AK, Kranz B, Büscher R, Hildebrandt F, Dworniczak B, Pennekamp P, et al. Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome. Clin J Am Soc Nephrol. 2010;5(11):2075-84. http://dx.doi.org/ 10.2215/ CJN.01190210

Gulati S, Uttam R. Congenital Nephrotic Syndrome: A Case Report and Review of Literature. JIMSA. 2015;28(1):35-6.

Gentner JE, Wood EG, Vogler CA, Beck AM, Knutsen AP. Remission of congenital nephrotic syndrome from diffuse mesangial sclerosis with IVIG therapy. J Allergy Clin Immunol. 2015;121(2):83. https://doi.org/10.1016/j.jaci.2007.12.331

Moodley R, Naicker E, Bhimma R. Congenital nephrotic syndrome: A diagnostic andmanagement dilemma. South African J Child Heal. 2015;9(4):140. https://doi.org/10.7196/SAJCH.2015.v9i4.903

No national or foreign publication may partially or totally reproduce or translate Revista Colombiana de Nefrología articles or abstracts without prior written permission from the journal’s Editorial Board.

Dimensions


PlumX


Downloads

Download data is not yet available.