Analýza placenty u prenatálně diagnostikovaných pacientů s mukopolysacharidosou II a VI prokázala časné hromadění GAG

Abstrakt

We analyzed placental tissue in one fetus with MPS II (iduronate sulphatase deficiency) and another with MPS VI (arylsulfatase B deficiency). Both were diagnosed prenatally, but families decided to continue pregnancies and placentas were collected at birth.

We were able to demonstrate early storage of GAGs in both diseases by GAG measurement and microscopy analysis. Our results suggest that some alterations related to MPS storage, although not pronounced, may be observed in placental tissue of patients affected by MPS II and MPS VI.

Klíčová slova

• Mucopolysaccharidoses
• Hunter syndrome
• Maroteaux-lamy syndrome
• Prenatal diagnosis
• Glycosaminoglycans
• Lysosomal storage diseases