Mucopolisacaridosis tipo VII: ¿causa infrecuente de hidrops fetal? / Mucopolysaccharidosis VII: an unusual cause of hydrops fetalis?
Diagn. prenat. (Internet)
; 23(1): 11-14, ene.-mar. 2012. ilus
Article
in Spanish
| IBECS
| ID: ibc-133529
Responsible library:
ES1.1
Localization: BNCS
RESUMEN
Presentamos el caso de una gestante en la cual se lleva a cabo el diagnóstico de hidrops fetal, a las 17 semanas de embarazo, en dos gestaciones consecutivas. Descartada la etiología inmune, en la segunda gestación se investigó -entre otras- la asociación con enfermedades de depósito lisosomal, detectándose actividad disminuida de la beta-glucuronidasa en amniocitos cultivados y perfil de glucosaminoglucanos en líquido amniótico, indicativos de enfermedad de Sly o mucopolisacaridosis tipo VII, de herencia autosómica recesiva (AU)
ABSTRACT
We report the case of a pregnant woman who was diagnosed with hydrops fetalis at 17 weeks in two consecutive pregnancies. Once an immune origin was ruled out, the association with lysosomal storage diseases was investigated during the second pregnancy. This showed decreased activity of beta-glucuronidase in cultured cells and a glycosaminoglycan profile in amniotic fluid, indicative of Sly disease or mucopolysaccharidosis type VII which is inherited in an autosomal recessive pattern (AU)
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Collection:
National databases
/
Spain
Database:
IBECS
Main subject:
Hydrops Fetalis
/
Mucopolysaccharidosis VII
Type of study:
Diagnostic study
/
Etiology study
/
Risk factors
Limits:
Adult
/
Female
/
Humans
Language:
Spanish
Journal:
Diagn. prenat. (Internet)
Year:
2012
Document type:
Article
Institution/Affiliation country:
CIBERER-IDIBAPS/España
/
Hospital Juan Ramón Jiménez/España