Jadresic, Lyda P; (1994) The nephrotic syndrome in the first year of life. Doctoral thesis (M.D), UCL (University College London).

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Abstract

Children who develop the nephrotic syndrome during the first year of life have unique characteristics. This thesis comprises clinical and laboratory studies carried out in this group of children. The clinical, radiological and histological features of 62 children who presented with the nephrotic syndrome under one year of age were analysed. Morbidity and mortality were found to be particularly severe during the first 3 months of life, irrespective of underlying histology. Clinico- histopathological correlations were more clearly established in those presenting over 3 months of age. Complex phenotypes were identified and previously unreported associations were described. Loss of anionic charge from the glomerular basement membrane in the form of heparan sulphate may lead to the proteinuria in congenital nephrotic syndrome (CNS). In a study of urinary glycosaminoglycan excretion in children with different forms of CNS the ratio of heparan sulphate to chondroitin sulphate was found to be increased. This was not specific to a particular type of CNS and correlated with the degree of proteinuria. The clinico-pathological features of 12 children with a nephropathy, Wilms' tumour and/or Genital abnormalities (Denys-Drash syndrome) were analysed. Ten progressed to end-stage renal failure, of whom 7 were less than 3 years of age. Seven children had Wilms' tumour, 3 of whom had bilateral involvement. Ten children had a distinct pelvi- calyceal abnormality which might be regarded as the fourth feature of this syndrome. A cytogenetic and molecular study was carried out focussing on the llpl3 region. One patient showed this deletion on karyotype. However, using gene dosage techniques on Southern blots, no microdeletions were demonstrated in any of the other patients studied. This thesis has helped to define further the clinical description of children with early-onset nephrotic syndrome and has added to the existing knowledge of the pathological changes involved.

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