[Graft of cryopreserved human amniotic epithelial cells in a subject with type B Niemann-Pick disease].
Implantation of pure cryopreserved epithelial cells obtained by enzymatic digestion of human amnion was successfully carried out in one patient affected by Niemann-Pick disease type B. No host-versus-graft reaction was recorded after implantation. The clinical improvement observed in this patient is supposed to be effect of the documented increase of sphingomyelinase activity in his leukocytes after implantation, confirming the possibility that an effective release of sphingomyelinase from amniotic epithelial cells and enzyme uptake by deficient cells can occur. Separation and cryopreservation of human amnion epithelial cells markedly improve the procedures of implantation and may represent a further step beyond in the enzymatic therapy of many lysosomal storage disorders.
D000293:Adolescent; D000650:Amnion / Q000201:enzymology / Q000637:transplantation*; D002469:Cell Separation; D004848:Epithelium / Q000201:enzymology / Q000637:transplantation; D005615:Freezing; D006801:Humans; D008297:Male; D009542:Niemann-Pick Diseases / Q000628:therapy*; D011309:Preservation, Biological; D013108:Sphingomyelin Phosphodiesterase / Q000378:metabolism
D013108:Sphingomyelin Phosphodiesterase
Impianto di cellule epiteliali amniotiche umane crioconservate in un soggetto affetto da malattia di Niemann-Pick tipo B.