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Nephrosis in two siblings with infantile sialic acid storage disease

  • Metabolic Diseases
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Abstract

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 withLimax 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.

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Abbreviations

HE:

haematoxylin-eosin

ISSD:

infantile sialic acid storage disease

LFA:

Limax flavus agglutinin

PAS:

periodic acid-Schiff

PTA:

phosphotungstic acid

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Author notes

  1. W. Sperl

    Present address: Department of Paediatrics, University of Nijmegen, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands

Authors and Affiliations

  1. Department of Paediatrics, University of Innsbruck, A-6020, Innsbruck, Austria

    W. Sperl & F. M. Fink

  2. Department of Paediatrics, University of Graz, A-8036, Graz, Austria

    W. Gruber & E. Paschke

  3. N Goormaghtigh Institute of Pathology, B-9000, Ghent, Belgium

    J. Quatacker

  4. Department of Paediatrics, University of Nijmegen, 6500 HB, Nijmegen, The Netherlands

    L. Monnens

  5. Department of Human Pathology, University of Mainz, D-6500, Mainz, Federal Republic of Germany

    W. Thoenes

Authors
  1. W. Sperl
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  2. W. Gruber
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  4. L. Monnens
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  7. E. Paschke
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Sperl, W., Gruber, W., Quatacker, J. et al. Nephrosis in two siblings with infantile sialic acid storage disease. Eur J Pediatr 149, 477–482 (1990). https://doi.org/10.1007/BF01959399

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  • DOI: https://doi.org/10.1007/BF01959399

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