RESUMO
Congenital 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.
RESUMO
Renal disease is a common complication of human immunodeficiency virus (HIV) infection in adults. In children, however, HIV pathology of the gastrointestinal and respiratory tracts predominates, whereas renal disease is often an incidental finding. In this report, we describe a child with stage III HIV infection associated with immunotactoid glomerulonephritis (IT). The patient was referred for investigation of idiopathic nephrotic syndrome. Electron microscopy of his renal biopsy specimen revealed numerous electron-dense microtubular deposits, arranged in parallel fashion, consistent with a diagnosis of IT. He received highly active antiretroviral therapy (HAART) as well as corticosteroids and is currently in remission. To our knowledge, this is the first report of IT in a child.