Treatment of sphingomyelinase deficiency by repeated implantations of amniotic epithelial cells.
Am J Med Genet
; 44(4): 527-33, 1992 Nov 01.
Article
en En
| MEDLINE
| ID: mdl-1442900
ABSTRACT
Five young patients with Niemann-Pick disease type B were treated with repeated implantations of amniotic epithelial cells, as a source of exogenous sphingomyelinase. This treatment abolished the recurrent infections, mainly of the respiratory tract, and led to other improvements of the general conditions of the patients. In particular, we noticed a disappearance of vomiting, a recovery from muscular hypotrophy, and significantly reduced pulmonary distress. In four subjects, who were in a prepuberal state, there was a puberal spurt with a concomitant burst of growth. In two cases, characterized by a greater than normal content of sphingomyelin in urinary sediments, a single implantation caused a sustained normalization of sphingomyelin and total phospholipids in the urine. Finally, sphingomyelinase activity of peripheral leukocytes, when assayed 0.5 to 4 months after some of the implantations, showed a rise to heterozygous values in 30-40% of the assays.
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Banco de datos:
MEDLINE
Asunto principal:
Esfingomielina Fosfodiesterasa
/
Enfermedades de Niemann-Pick
/
Amnios
Límite:
Adolescent
/
Child
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Am J Med Genet
Año:
1992
Tipo del documento:
Article
País de afiliación:
Italia