Foamy changes of placental cells in probable beta glucuronidase deficiency associated with hydrops fetalis.
AUTOR(ES)
Nelson, J
RESUMO
Mucopolysaccharidosis type VII (MPS VII, beta glucuronidase deficiency) has been described in association with non-immune hydrops fetalis. Three consecutive pregnancies in an itinerant family, which resulted in stillbirths caused by non-immune hydrops are described. The parents were closely related and there was a strong family history of storage disorders. The main clue to the diagnosis, however, came from the presence of pronounced foamy cytoplasmic change in the villous Hofbauer cells of the placenta. This raised the possibility of an inherited metabolic storage disorder. The parents were subsequently shown to have beta glucuronidase activities in the heterozygous range in leucocytes and fibroblasts which suggested that the non-immune hydrops was caused by beta glucuronidase deficiency.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=501223Documentos Relacionados
- Endocardial fibroelastosis in infants with hydrops fetalis.
- Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene.
- Detection of active heteropolymeric beta-glucuronidase in hybrids between mouse cells and human fibroblasts with beta-glucuronidase deficiency.
- Mucopolysaccharidosis type VII associated with hydrops fetalis: histopathological and ultrastructural features with genetic implications.
- Presentation of mucopolysaccharidosis VII (beta-glucuronidase deficiency) in infancy.