Sperl W, Gruber W, Quatacker J, Monnens L, Thoenes W, Fink F M, Paschke E
Department of Paediatrics, University of Innsbruck, Austria.
Eur J Pediatr. 1990 Apr;149(7):477-82. doi: 10.1007/BF01959399.
The diagnosis of infantile sialic acid storage disease (ISSD) was established in two siblings on the basis of typical clinical signs and the biochemical findings of hyperexcretion and intracellular storage of free sialic acid. A severe, steroid resistant nephrosis occurred in both siblings. The activities of lysosomal enzymes, including sialidase, were normal. A combined detection method for sialic acids with Limax flavus agglutinin labelling and phosphotungstic acid staining showed severely alterated sialic acid components in epithelial kidney cells and indicate a causal relationship between the nephrosis and the underlying biochemical defect. Further observations of ISSD patients with renal involvement will prove if a separate nephropathic phenotype exists.
