Nuevas pistas para comprender la gastrosquisis. Embriología, patogénesis y epidemiología

Abstract

La gastrosquisis es un defecto estructural congénito de la pared abdominal, localizado con mayor frecuencia a la derecha del ombligo, a través del cual sobresalen las vísceras abdominales. Durante mucho tiempo, sus aspectos evolutivos, etiológicos y epidemiológicos han sido un tema candente de controversia, aunque hallazgos recientes sugieren la participación de alteraciones genéticas, cromosómicas, y la existencia de una vía patogénica inductora de estrés, en la que factores de riesgo como los demográficos y ambientales pueden converger.
 Con el objetivo de ampliar la frontera del conocimiento sobre una malformación que ha mostrado una creciente prevalencia global, hemos efectuado una revisión que incluye información, del desarrollo embrionario de la pared corporal ventral, el intestino primitivo, el complejo anillo-cordón umbilical, y de las teorías acerca de su origen, patogénesis e información epidemiológica reciente.

Case Report: foetal gastroschisis with ideal pregnancy outcomes under multidisciplinary treatment management

“…Decades ago, gastroschisis was thought to be a common embryonic mechanism associated with defects in the fusion of lateral body folds, causing abnormal closure of the abdominal cavity, similar to other congenital anomalies of the ventral body wall, and was also thought to be a separate malformation of the umbilical cord ( 17 ), usually occurring between weeks 4 and 12 after embryogenesis ( 18 , 19 ). Studies have proposed several possible theories about the origin of gastroschisis, including the following: (1) abnormal fusion of the midline of the asymmetric body fold, thereby preventing the yolk sac from merging into the fixed pedicle, leading to the development of gastroschisis ( 20 ).…”

County-Level Atrazine Use and Gastroschisis

“…Despite this recorded rise in incidence of gastroschisis, substantial gaps remain in our knowledge about the cause of the defect. Compared with other congenital anomalies, gastroschisis may be the result of the joint interplay of genetic and nongenetic factors . Several theories hypothesize the embryologic origins of gastroschisis, but few have successfully connected known risk factors, such as young age (<25 years), smoking, low body mass index (BMI) (as measured by weight in kilograms divided by height in meters squared), and nulliparity, to the anatomic basis of the defect .…”

“…Compared with other congenital anomalies, gastroschisis may be the result of the joint interplay of genetic and nongenetic factors . Several theories hypothesize the embryologic origins of gastroschisis, but few have successfully connected known risk factors, such as young age (<25 years), smoking, low body mass index (BMI) (as measured by weight in kilograms divided by height in meters squared), and nulliparity, to the anatomic basis of the defect . One predominating theory proposes that these various risk factors may contribute to the pathophysiology of gastroschisis via an estrogen-linked hypothesis .…”

“…Although surgical advancements have dramatically improved outcomes for infants born with the congenital abnormality, gastroschisis may be associated with substantial morbidity, including short bowel syndrome and intestinal atresia. 1 , 2 Data suggest that rates of gastroschisis have increased globally, 3 , 4 , 5 increasing from 0.06 to 0.8 per 10 000 births in the 1960s 6 to 4.9 per 10 000 births in 2014. 5 These increased rates have predominantly been observed in young White mothers 3 , 7 ; however, data on the national incidence of gastroschisis at present are sparse.…”

“… 6 Several theories hypothesize the embryologic origins of gastroschisis, but few have successfully connected known risk factors, such as young age (<25 years), smoking, low body mass index (BMI) (as measured by weight in kilograms divided by height in meters squared), and nulliparity, to the anatomic basis of the defect. 6 One predominating theory proposes that these various risk factors may contribute to the pathophysiology of gastroschisis via an estrogen-linked hypothesis. 8 In standard embryologic development, the right-side umbilical vein involutes, leaving the umbilical cord with 2 umbilical arteries and the remaining left-side umbilical vein.…”