Satekge, Tumelo M.Kiabilua, OliviaVan Biljon, GertruidaPillay, KomalaPillay, Tahir S.2018-05-022018-05-022017Satekge, T.M., Kiabilua, O., Van Biljon, G. et al. 2017, 'Case report : a toddler with anasarca caused by congenital nephrotic syndrome', Journal of the International Federation of Clinical Chemistry and Laboratory Medicine, vol. 28, no. 2, pp. 156-163.1051-2292 (online)http://hdl.handle.net/2263/64757Congenital nephrotic syndrome is a rare inherited disorder arising from defects in the proteins of the cells in the glomerular basement membrane and develops either in utero or at birth. The clinical presentation is the result of massive protein loss in the urine with associated compensatory mechanisms. Here we present a clinical case of a female toddler with a history of anasarca (severe generalised edema) from birth and who presents with the classical biochemical laboratory findings of nephrotic syndrome, together with the more pronounced features that arise from protein loss including abnormal thyroid function testing and a marked hypercholesterolaemia. Renal biopsy indicated congenital nephrotic syndrome of the Finnish type. This clinical-diagnostic case report represents an example of the broad spectrum of pathophysiological findings of a severe congenital nephrotic syndrome.en© 2017 International Federation of Clinical Chemistry and Laboratory Medicine (IFCC). All rights reserved. This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/).Congenital nephrotic syndrome (CNS)Glomerular basement membraneProtein lossSevere generalised edemaAnasarcaHealth sciences articles SDG-03SDG-03: Good health and well-beingHealth sciences articles SDG-17SDG-17: Partnerships for the goalsArticle