Enfermedad de Gaucher Tipo I y embarazo: diagnóstico molecular / Type I Gaucher disease and pregnancy: molecular diagnostics
Rev. obstet. ginecol. Venezuela
;
74(3): 210-216, sep. 2014. ilus
Article
in Spanish
| LILACS
| ID: lil-740395
RESUMEN
Presentamos paciente de 33 años, II gesta, I aborto, con enfermedad de Gaucher tipo I, diagnosticado hace 28 años. Recibió terapia de reemplazo enzimático. A las 38 semanas de gestación se realizó cesárea obteniendo recién nacido femenino. En el Instituto de Investigaciones Genéticas de la Facultad de Medicina de la Universidad del Zulia. Maracaibo. Se analizaron 6 muestras de ácido desoxirribonucleico, correspondientes a afectada, hija y madre de afectada y 3 controles. En esta paciente no hubo complicaciones durante el embarazo, la recién nacida no presentó defectos congénitos, puerperio complicado con anemia y trombocitopenia. La asignación de genotipos permitió adecuado asesoramiento genético.
ABSTRACT
We present a 33 year-old female. Gravida II, abortion I, with type I Gaucher disease diagnosed 28 years before, receiving treatment with enzyme replacement therapy during pregnancy. At 38 weeks gestation a female infant was delivered by cesarean section. In Genetic Research Institute of the Faculty of Medicine. University of Zulia. Maracaibo. 6 samples of desoxyribonucleic acid corresponding to affected, daughter and mother of affected, and 3 controls were analyzed. In this pacient there was no complications during pregnancy, there were no malformations at birth, post partum with anemia and thrombocytopenia. The assignment of genotypes allowing adequate genetic counseling.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Pregnancy Complications
/
Congenital Abnormalities
/
Thrombocytopenia
/
DNA
/
Pathology, Molecular
/
Genotyping Techniques
/
Gaucher Disease
/
Glucosylceramidase
Type of study:
Diagnostic study
/
Etiology study
/
Evaluation studies
/
Risk factors
Limits:
Female
/
Humans
/
Pregnancy
Language:
Spanish
Journal:
Rev. obstet. ginecol. Venezuela
Journal subject:
Gynecology
/
Obstetrics
Year:
2014
Type:
Article
Affiliation country:
Venezuela
Institution/Affiliation country:
Universidad del Zulia/VE
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