Jun 19, 2018
The occurrence of malformations of the gastrointestinal tract is the result of the influence of genetic and external factors affecting the fetus in the intrauterine period. One of the severe anomalies of development is the congenital narrowing( stenosis) of the place where the stomach passes into the duodenum, called the pylorus. Hence the name of the disease - pyloric stenosis. This pathology is observed in 1 out of 150 newborn boys and 1 in 750 girls. The family character of the disease is noted in 15% of all cases, but the type of inheritance is not yet established. The risk for family members depends to a large extent on the sex of the patient and the sex of his relatives and is, in the case of a male patient, 2-3% for the first-degree relatives of the female and 4-9% for the male-male relatives. For sisters and brothers of a sick female, the risk of pyloric stenosis is up to 4% and 10%, respectively. For the daughters of the patient, the risk varies between 7% and for the sons - up to 19%.
The prevalence of pyloric stenosis on the globe varies greatly: from 2-4 per 1000 in northern Europe to 0.5: 1000 among blacks and Japanese. There are reports of the association of pyloric stenosis with a number of diseases and developmental malformations. So, pyloric stenosis was detected with increased frequency with diaphragmatic hernia, atresia of the esophagus and intestinal obstruction.
It is assumed that one of the mechanisms underlying this phenomenon can be the production of the mother's body under the influence of stress( which is pregnancy, especially the first) of a factor that then causes the growth of the pylorus tissue in the child, leading to its stenosis. As knowledge on the relationship of biologically active substances( hormones) in the brain and intestines accumulates, more and more candidates for the role of agents that carry out this interaction are accumulating. It can be assumed that both stress and maternal hereditary factors influence through this common path, hitting children with a genetically programmed sensitivity to the putative hormone. Morphologically, with pyloric stenosis, excessive development of connective tissue and an incorrect arrangement of muscle fibers with a deficiency of nerve cells are found.
Distinguish acute and protracted form of the disease. The first is much less common and is expressed by very rapid progression. Usually there is a gradual increase in symptoms. The first sign - unstable vomiting - appear at 2-4 weeks of life, less often at 1 week, even more rarely - at 2-3 months. As a rule, a week after the onset of symptoms, vomiting becomes abundant, occurs during or immediately after each meal, but sometimes several hours after eating. The child is constantly restless, hungry, greedily sucks. Emetic masses consist of gastric contents, sometimes with an admixture of blood. The stool is rare, the volume of stool is small. Children develop rapidly exhaustion, the symptoms of a large amount of fluid loss, severe metabolic disorders.
When examining the abdomen, especially shortly after a meal and a mild massage of the anterior abdominal wall, visible waves of motor activity of the intestine( peristalsis) come out from the left upper abdomen to the right - a symptom of the "hourglass".This symptom in the diagnosis of pyloric stenosis, especially in the early stages of the disease with a small amount of clinical manifestations, is given special significance. With a thorough palpation( manual examination) of the abdomen, it is possible to feel the thickened pyloric section of the stomach. In cases where stenosis is not detected in this way, resort to radiopaque examination. The method of treatment is the surgical removal of the pyloric obstruction immediately after the diagnosis and elimination of metabolic disorders. With early diagnosis and adequate preparation for surgery, the postoperative mortality of children is less than 1%.
The genetic aspects of many congenital anomalies in the development of the gastrointestinal tract leading to partial or complete obstruction of the intestine, as well as to obstructive processes affecting mainly the rectum and anus, less often the small intestine, seem to be insufficiently clear by now. The most serious vices, in addition to the described congenital stenosis of the doorkeeper, include: atresia and stenosis of the duodenum( alone or in combination with the annular pancreas);atresia or stenosis of the jejunum or ileum;wrong turn of the intestinal tube( alone or in combination with a turn of the intestines);Hirschsprung's disease;atresia of the anus;doubling and diverticula of the intestine.