Comparación de las características epidemiológicas de los defectos del tubo neural clasificados según el fallo de los distintos puntos de cierre

Sanchís Calvo, A.; Martínez-Frías, M.aL.

doi:10.1016/S1695-4033(02)77965-4

Article information

Objetivos

Estudiar las características epidemiológicas de los defectos del tubo neural (DTN) clasificados según la teoría del cierre múltiple del mismo e intentar relacionar distintos factores con el fallo de los distintos puntos de cierre.

Material y métodos

Se han utilizado los datos del Estudio Colaborativo Español de Malformaciones Congénitas (ECEMC) relativos al período de abril de 1976 y abril de 1995. Durante este período se diagnosticaron 757 DTN de origen no sindrómico que se clasificaron en grupos de DTN según el fallo de los distintos puntos de cierre y analizado una serie de variables comparando los distintos grupos de DTN entre sí.

Resultados y conclusiones

El 2,11 % de los DTN no sindrómicos recurren en los hermanos, pero la verdadera tasa de recurrencia en nuestro medio es más elevada, de 2,63 %, y es la que corresponde a las recurrencias observadas antes del año 1986, ya que a partir de entonces puede estar modificada por la posibilidad legal de aborto tras diagnóstico prenatal.

Los DTN clasificados según el fallo de los distintos puntos de cierre difieren entre sí en cuanto al peso y la mortalidad y en cuanto a su relación con el uso materno de ácido valproico y con la diabetes mellitus materna. Mientras el ácido valproico es más específico del fallo del cierre 1 y de la zona 1 1 5, la diabetes afecta preferentemente al cierre 4. Este punto de cierre 4 tiene condicionantes claramente genéticos; está afectado en síndromes génicos y los DTN por fallo de este cierre tienen predominio femenino, mayor número de abortos maternos y mayor recurrencia. Con frecuencia se presentan como polimalformados y tienen más malformaciones en familiares.

Palabras clave:

Defectos del tubo neural

Epidemiología del fallo de los distintos puntos de cierre del tubo neural

Objectives

To study the epidemiological characteristics of neural tube defects (NTD) classified according to the theory of multi-site closure of the neural tube and to correlate several factors with the failure of different closure sites.

Material and methods

We used the data from the Spanish Collaborative Study of Congenital Malformations (ECEMC), collected from April 1976 to April 1995. During this time, 757 NTD of non-syndromic origin were diagnosed. These were classified into groups according to the failure of the point of closure and a range of variables were analyzed by comparing the different groups of NTD with each other.

Results and conclusions

Among non-syndromic NTD, 2.11 % recurred in siblings. However, the real recurrence rate in our population is 2.63 %, which corresponds with the recurrence rate observed before 1986. From this year the recurrence rate was modified by the legal possibility of abortion after prenatal diagnosis.

The infants with NTD classified according to multi-site closure failure of neural tube differed in weight, mortality, maternal use of valproic acid, and maternal diabetes mellitus. While valproic acid is more specific to failure of closure sites 1 and 1 + 5, maternal diabetes mellitus preferentially affects failure of closure site 4. Closure site 4 is clearly genetically determined: it is frequently observed in genetic syndromes, predominantly affects females and is associated with a higher rate of maternal abortions and higher recurrence. Moreover, it is frequently observed in infants with multiple congenital anomalies and is associated with a higher rate of malformations among relatives.

Key words:

Neural tube defects

Epidemiology of the multi-site closure failure of the neural tube

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