Niemann-Pick-Krankheit

Niemann-Pick disease (NPD) is actually a collection of a number of distinct autosomal recessive lysosomal storage diseases. They are divided into two groups of two based on the underlying metabolic deficiency:

  • deficiency of acid sphingomyelinase
    • Niemann-Pick disease type A (NPD-A)
      • severe hepatosplenomegaly in infancy
      • severe central nervous system involvement, with atrophy or white matter T2 signal increase on MRI
      • usually, succumb to the disease by 2 years of age
    • Niemann-Pick disease type B (NPD-B)
      • hepatosplenomegaly
      • minimal CNS involvement
      • variable age of onset and more indolent clinical course
  • impaired intracellular cholesterol trafficking  
    • Niemann-Pick disease type C (NPD-C)
      • pronounced CNS involvement with atrophy or white matter T2 signal increase on MRI
      • mild hepatosplenomegaly
    • Niemann-Pick disease type D (NPD-D)
      • Nova Scotian ancestry
Siehe auch: