EVALUACIÓN CLÍNICA, BIOQUÍMICA Y MOLECULAR DE UNA FAMILIA CON RECURRENCIA DE DEFECTOS DEL TUBO NEURAL.
Resumen
Se presenta una familia originaria del sur de Nuevo León con recurrencia de defectos del tubo
neural (DTN) cuyos productos sobrevivientes se han logrado después del tratamiento preconcepcional
con folato. Después de las evaluaciones clínicas, bioquímicas y moleculares, se
encuentra que los miembros presentan heterocigocidad para la mutación MTHFR 677T y que la
madre y la hija son heterocigotas compuestas 677C/677T – 1298A/1298C. Los niveles de folatos
intraeritrocitarios y plasmáticos son normales y sólo el padre presenta niveles levemente
incrementados de homocisteinemia. Estos resultados sugieren una interacción entre factores
genéticos y nutricionales previamente implicados en la patogénesis de los DTN que podrían estar
asociados adicionalmente a la recurrencia de este cuadro malformativo.
Abstract
A family is presented it would originate of the south of Nuevo León with recurrence of neural tube
defects (NTD) whose products survivors have been achieved after the treatment preconceptional
with folate. After the clinical, biochemical and molecular evaluations, it is found that
the members present heterocigocity for the mutation MTHFR 677T and that the mother and the
daughter are compound heterozygotes 677C/677T - 1298A/1298C. The levels of red cells
folates and plasmatic they are normal and the father only presents slightly increased levels of
homocystenaemia. These results suggest an interaction among genetic and nutritional factors
previously implied additionally in the pathogenesis of the NTD that could be associate to the
recurrrrence of this defect.
Palabras clave: anancefalia, defectos, tubo, neural, Nuevo León, México, anencephaly, defects, neural, tube
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