Plasma chitotriosidase and CCL18: early biochemical surrogate markers in type B Niemann-Pick disease

J Inherit Metab Dis. 2005;28(1):13-20. doi: 10.1007/s10545-005-4416-9.

Abstract

Type B Niemann-Pick disease (NPD) is a nonneuronopathic lysosomal storage disorder which is characterized by accumulation of sphingomyelin-laden macrophages. The availability of plasma markers for storage cells may be of great value in facilitating therapeutic decisions. Given the similarity of the storage cells in NPD and Gaucher disease, we studied Gaucher plasma markers (chitotriosidase and CCL18) in two siblings homozygous for the R228C mutation in acid sphingomyelinase (ASM) and a type B course of NPD. The older sibling, first examined at the age of 9 months, showed marked hepatosplenomegaly and pulmonary involvement. The younger sibling has mild asymptomatic hepatosplenomgaly at the age of 5 months. Analysis of plasma specimens revealed markedly increased levels of chitotriosidase and CCL18 in the older sibling. In the younger child also, plasma chitotriosidase and CCL18 were clearly elevated above normal values almost immediately after birth and rapidly increased further. Histochemistry confirmed production of CCL18 by foam cells. In conclusion, plasma chitotriosidase and CCL18 may also serve as markers for the formation of pathological lipid-laden macrophages in type B NPD, in analogy to Gaucher disease. The availability of sensitive plasma surrogate markers may be of great value for monitoring the efficacy of enzyme supplementation therapy that is currently being developed.

Publication types

  • Case Reports

MeSH terms

  • Bone Marrow Cells / cytology
  • Bone Marrow Cells / metabolism
  • Chemokines, CC / biosynthesis*
  • Family Health
  • Female
  • Foam Cells / metabolism
  • Gaucher Disease / blood
  • Hexosaminidases / blood*
  • Hexosaminidases / metabolism
  • Homozygote
  • Humans
  • Immunohistochemistry
  • Infant
  • Lipid Metabolism
  • Mutation
  • Niemann-Pick Diseases / metabolism*
  • Sphingomyelin Phosphodiesterase / genetics

Substances

  • CCL18 protein, human
  • Chemokines, CC
  • acid sphingomyelinase-1
  • Sphingomyelin Phosphodiesterase
  • Hexosaminidases
  • chitotriosidase