Duodenal atresia is the congenital absence or complete closure of a portion of the lumen of the duodenum. It causes increased levels of amniotic fluid during. Duodenal atresia or stenosis is a rare congenital digestive disorder that usually occurs for no apparent reason (sporadically). However, a few. A collection of disease information resources and questions answered by our Genetic and Rare Diseases Information Specialists for Duodenal atresia.
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Duodenal atresia or stenosis is a rare congenital digestive disorder that usually occurs for no apparent reason sporadically. However, a few cases of duodenal atresia have been inherited as an autosomal recessive genetic trait.
Duodenal atresia is a disease of newborn infants. Absence or complete closure atresia of a portion of the channel lumen within the first part of the small intestine duodenumor partial obstruction due to narrowing stenosis of the duodenum, is present. Other associated abnormalities may be found in over half of those affected with duodenal atresia or duodenal stenosis. Duodenal atresia and duodenal stenosis are abnormalities in which there is an absence or complete closure atresia in the first part of the small intestines duodenum or narrowing stenosis of the duodenum.
These obstructions in the digestive tract of infants prevent proper absorption of food.
The defect in the duodfnum may be located in the area where the pancreatic and bile ducts join as they open into the first part of the small intestines ampulla of Vater, or in the portion of the duodenum furthest from the opening of the ampulla of Vater. There may be an absence of the channel at the top of the small intestine, a ring or web in the duodenum, an abnormally small channel at the top of the small intestines, or the duodenum may end with just a short chord going to the bowel.
Symptoms of partial duodenal blockage vary depending on the severity. They may wax and wane not appearing for weeks, months, or years.
Prolonged vomiting along with dehydration may also occur. Associated abnormalities have been found in some infants with duodenal atresia or duodenal stenosis. Twenty to thirty percent of individuals affected with these disorders have Down syndrome and twenty-two percent have heart disease.
The majority of cases of duodenal atresia or stenosis occur for no apparent reason sporadically. There are two theories as to why the abnormalities may occur. Blood vessel defects in the embryo may cause the absence or closure of the duodenum by decreasing the blood supply in the affected area, or there may be an overgrowth of cells in the duodenum that obstruct the channel of the first part of the duodenum lumen occuring during the sixth or seventh week of fetal development.
A few cases of duodenal atresia have been inherited as an autosomal recessive genetic trait. Human traits, including the classic genetic diseases, are the product of the interaction of two genes, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene for the same trait from each parent. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms.
The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is 25 percent. Fifty percent of their children risk being carriers of the disease, but generally will not show symptoms of the disorder. Twenty-five percent of their children may receive both normal genes, one from each parent, and will be genetically normal for that particular trait.
The risk is the same for each pregnancy. Duodenal atresia or stenosis is a rare disorder that occurs in approximately 1 of 7, live births to 1 of 40, live births. In Finland, the rate goes up to 1 case per 3, live births. Males and females are affected in equal numbers. Symptoms of the following disorders can be similar to those of duodenal atresia or stenosis.
Comparisons may be useful for a differential diagnosis:. Jejunal atresia is a birth defect in which there is a partial absence of the fold of the stomach membrane that connects the small intestine to the back wall of the abdomen.
This abnormality causes a portion of the small intestine the jejunal to twist around one of the arteries of the colon. The appearance of this condition resembles a Christmas tree or apple peel when viewed by a surgeon.
Jejunal atresia may be inherited as an autosomal recessive genetic trait, or may occur sporadically with no known cause. Multiple intestinal atresia is a rare disorder in which there are multiple areas of the intestines with an absence of a normal opening or space. This causes an intestinal blockage. The atresias typically involve: Infants born with this condition may have persistent vomiting and may have swelling just below the breast bone, an empty anal canal, and a hollow or boat shaped abdomen scaphoid abdomen.
Pyloric stenosis is a digestive disorder that may be apparent soon after birth or during the first few months of life. It may also occur in adults.
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The development of forceful vomiting projectile immediately after eating or when the stomach is filled is one of the first symptoms. Because too little food reaches the intestines, constipation is a frequent complication, as is failure of the infant to gain weight.
The signs and symptoms of adult pyloric stenosis are similar to those in the infant. Duodenal atresia may be recognized through ultrasound by the presence of a “double bubble” which can be seen in the abdominal area.
The earlier the disorder is recognized and surgery is performed, the better the outcome. Parenteral nutrition food atresix through a vein or directly to the stomach, but not by mouth may be needed for a period of time.
The surgery most often performed is a duodenojejunostomy. This is a procedure in which a connection is formed between the duodenum and the jejunum. When the atresia is located in the first part of the duodenum, a gastrojejunostomy may be the treatment of choice.
This is a procedure in which there is a surgical creation of a connection between the stomach and jejunum bypassing the obstruction. A duodenoduodenostomy is another surgical procedure sometimes used to create a connection or opening between the two portions of the divided duodenum.
Genetic counseling may be of benefit for patients and their families with the hereditary form of the disorders. Information on current clinical atrewia is posted on the Internet at www. All studies receiving U. Nelson Textbook of Pediatrics. Anatomy and Structural Anomalies. Combined pure esophageal atresia, duodenal atresia, biliary atresia, and pancreatic ductal atresia: Laparoscopic duodenoduodenostomy for duodenal atresia.
Anomalies associated with oesophageal atresia in Asians and Europeans. Surgical treatment for congenital duodenal obstruction. Atrsia Med Assoc Thai. East Mediterr Health J. The Johns Atesia University. The content of the website and databases of the National Organization for Rare Disorders NORD is copyrighted and may not be reproduced, copied, downloaded or disseminated, in any way, duodenu any commercial or public purpose, without prior written authorization and approval from NORD.
About News Events Contact. General Discussion Duodenal atresia or stenosis is a rare congenital digestive disorder that usually adalaah for no apparent reason sporadically.
Causes The majority of cases of duodenal atresia or stenosis occur for no apparent reason sporadically. Affected Populations Duodenal atresia or stenosis is a rare disorder that occurs in approximately 1 of 7, live births to 1 of 40, live births.
Related Disorders Symptoms of the following disorders can be similar to those of duodenal atresia or stenosis. Comparisons may be useful for a differential diagnosis: Standard Therapies Duodenal atresia may be recognized through ultrasound by the presence of a “double bubble” which can be seen in the abdominal area.
Investigational Therapies Information on current clinical trials is posted on the Internet at www. Calkins CM, Karrer F. Last Updated; August atrwsia, Years Published Alone we are rare. Together we are strong.