[Fetal pathology in Fabry's disease and mucopolysaccharidosis type I].
Fetal Fabry disease (defect of alfa galactosidase) and mucopolysaccharidosis I (defect of alfa iduronidase, family with IH phenotype) were diagnosed by biochemistry in two risk gravidities subsequently interrupted according to mother's demand. Fetus with Fabry disease (gestation age 19 weeks) had rudimentary storage in kidney and myenteric plexuses cells, cardiocytes were normal. Biopsy of chorionic villi showed a bit more conspicuous storage in single trophoblastic elements. Much more striking storage was observed in MPS I (gestational age 14-15 weeks) especially in liver (hepatocytes and sinus cells), spleen (sinus endothelial cells and pulp macrophages) and fibroblasts of skin and placenta. Skin peripheral nerves and cerebral cortical gangliocytes did not show any lysosomal storage. Different manifestation of storage in fetal age may reflex the speed of lysosomal storage development in both lysosomal enzymopathies.
Elleder
M
M
Ustav dĕdicných poruch metabolismu 1. LF UK a VFN, Praha.
Poupĕtová
H
H
Kozich
V
V
D000795:Fabry Disease / Q000196:embryology* / Q000473:pathology; D005260:Female; D005333:Fetus / Q000473:pathology*; D006801:Humans; D008059:Mucopolysaccharidosis I / Q000196:embryology* / Q000473:pathology; D011247:Pregnancy