PMID- 2347341
OWN - NLM
STAT- MEDLINE
DCOM- 19900709
LR  - 20190813
IS  - 0340-6199 (Print)
IS  - 0340-6199 (Linking)
VI  - 149
IP  - 7
DP  - 1990 Apr
TI  - Nephrosis in two siblings with infantile sialic acid storage disease.
PG  - 477-82
AB  - 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.
FAU - Sperl, W
AU  - Sperl W
AD  - Department of Paediatrics, University of Innsbruck, Austria.
FAU - Gruber, W
AU  - Gruber W
FAU - Quatacker, J
AU  - Quatacker J
FAU - Monnens, L
AU  - Monnens L
FAU - Thoenes, W
AU  - Thoenes W
FAU - Fink, F M
AU  - Fink FM
FAU - Paschke, E
AU  - Paschke E
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Eur J Pediatr
JT  - European journal of pediatrics
JID - 7603873
RN  - 0 (Sialic Acids)
SB  - IM
MH  - Carbohydrate Metabolism, Inborn Errors/*complications/physiopathology
MH  - Family
MH  - Female
MH  - Humans
MH  - Infant, Newborn
MH  - Kidney Glomerulus/pathology
MH  - Lysosomes/*metabolism
MH  - Male
MH  - Microscopy, Electron
MH  - Nephrosis/*complications/pathology
MH  - Sialic Acids/*urine
EDAT- 1990/04/01 00:00
MHDA- 1990/04/01 00:01
CRDT- 1990/04/01 00:00
PHST- 1990/04/01 00:00 [pubmed]
PHST- 1990/04/01 00:01 [medline]
PHST- 1990/04/01 00:00 [entrez]
AID - 10.1007/BF01959399 [doi]
PST - ppublish
SO  - Eur J Pediatr. 1990 Apr;149(7):477-82. doi: 10.1007/BF01959399.