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  • Articles: DFG German National Licenses  (2)
  • 1990-1994  (2)
  • Glycogen storage disease Ib  (1)
  • Methylmalonic acidaemia  (1)
  • 1
    Electronic Resource
    Electronic Resource
    Secondary amyloidosis in glycogen storage disease type Ib (1990)
    Springer
    European journal of pediatrics 149 (1990), S. 344-345 
    Details
    ISSN: 1432-1076
    Keywords: Glycogen storage disease Ib ; Secondary amyloidosis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract We observed the development of generalized amyloidosis in a girl with glycogen storage disease type Ib (GSD-Ib) who showed neutropenia, neutrophil dysfunction and recurrent infections. Renal and thyroid biopsies showed secondary amyloidosis, characterized by the presence of potassium permanganate sensitive Dylon positive deposits in glomeruli, renal vessels and thyroid interstitium. Immunohistochemistry showed that the deposits were composed of amyloid A (AA) protein. Possibly neutrophil abnormalities are involved in the pathogenesis of amyloidosis.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02171563
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
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  • 2
    Electronic Resource
    Electronic Resource
    Type 4 renal tubular acidosis (subtype 2) in a patient with methylmalonic acidaemia (1990)
    Springer
    European journal of pediatrics 150 (1990), S. 115-118 
    Details
    ISSN: 1432-1076
    Keywords: Methylmalonic acidaemia ; Type 4 renal tubular acidosis ; Chronic renal disease ; Tubulo-interstitial nephritis ; Hyporeninaemia
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract A 10-month-old male infant with vitamin B12 non-responsive methylmalonic acidaemia is reported. Laboratory results revealed hyperkalaemic, hyperchloraemic, metabolic acidosis with slight azotaemia. The urinary pH decreased (below 5.5) to compensate for acidaemia. Levels of plasma renin activity and plasma aldosterone concentration were low. The renal biopsy showed tubulo-interstitial nephritis. We suggested the diagnosis of type 4 renal tubular acidosis, subtype 2, i.e. hyporeninaemic hypoaldosteronism. We suggest that chronic renal disease may be a common complication of methylmalonic acidaemia.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02072052
    Library Location Call Number Volume/Issue/Year Availability
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    Paper (German National Licenses)
    Fulltext
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