Jejunal Atresia: Symptoms, Causes, and Treatment | North (2023)

disease overview

Jejunal atresia is a rare type of small bowel obstruction that affects newborns. Patients with this disorder are born with complete mechanical obstruction of the proximal small bowel. Obstruction may be caused by a membrane passing through the lumen of the intestine (type 1) or the entire space within the intestine (types 2 and 3). In type 3b, in addition to the gap, the jejunum folds toward one of the arteries (ileocolic and marginal arteries) that supply the distal small intestine and proximal large intestine, causing the bowel to coil into this shape. It looks like an apple peel or a Christmas tree. It is also sometimes called maypole or pagoda intestine.

• view full report
• Print/Download as PDF

• Next section>

• < previous section
• Next section>

Segmentation

• Type 1
• Type 2
• Type 3
• Type 4

• < previous section
• Next section>

• < previous section
• Next section>

signs and symptoms

Jejunal atresia affects the passage of substances through the small intestine. Symptoms in people with the disease include poor eating, vomiting of bile, bloated abdomen and constipation.

• < previous section
• Next section>

• < previous section
• Next section>

reason

Jejunal atresia occurs occasionally in normally normal fetuses for unknown reasons. The best theory to explain what happened is that blood flow to a certain part of the gut is cut off, causing the affected part to disappear, leaving a space in the gut.

There is some evidence for a possible genetic cause, especially in cases of multiple jejunal atresia (type 4). This theory is based on reports from families with multiple affected children. An autosomal recessive pattern of inheritance has been proposed, but no specific gene associated with the condition has been identified.

A recessive genetic disorder occurs when a person inherits a non-functional gene from both parents. If a person receives one working gene and one nonfunctional gene for the disease, that person becomes a carrier of the disease, but usually does not show any symptoms. Each pregnancy of two carrier parents has a 25% risk of inheriting the non-functional gene and thus having an affected child. As with both parents, the risk of having a carrier child is 50% per pregnancy. A child has a 25% chance of getting a functional gene from both parents. Men and women are at the same risk.

Although most infants with jejunal atresia are healthy, patients with the following diagnoses are considered predisposed to developing jejunal atresia: cystic fibrosis, gastroschisis, and prenatal midgut volvulus. About 10% of people with jejunal atresia will also be diagnosed with cystic fibrosis. Maternal use of vasoconstrictor drugs, maternal smoking, and maternal use of cocaine may contribute to the development of the disorder.

• < previous section
• Next section>

• < previous section
• Next section>

Affected population

Jejunal atresia affects male and female newborns equally.

• < previous section
• Next section>

• < previous section
• Next section>

diseases with similar symptoms

Symptoms of the following conditions may resemble jejunal atresia. Comparisons are useful for differential diagnosis:

Duodenal atresia is a rare condition in which the normal opening to the first part of the small intestine (duodenum) is blocked. This deformity can cause newborns to have polyhydramnios before birth and to vomit immediately after birth. Other symptoms of this disease may include: Swelling in the upper abdomen; yellowing of the skin (jaundice). The blockage can be repaired surgically.

• < previous section
• Next section>

• < previous section
• Next section>

diagnosis

Atresia can be detected with ultrasound before birth, but must be diagnosed after birth. Plain abdominal radiograph of a patient with jejunal atresia shows a distended bowel segment filled with gas and fluid. A barium swallow is an X-ray test done after a baby drinks liquid barium to evaluate the upper GI tract and confirm blockages. Another finding in some patients with jejunal atresia is that, beyond the point of obstruction, there is a smaller-than-normal large intestine called the small colon. A barium enema can confirm intestinal obstruction and an unused colon.

• < previous section
• Next section>

• < previous section
• Next section>

standard therapy

Surgery to repair intestinal obstruction is performed as soon as possible after delivery. A section of bowel including the atresia will be removed and the ends stitched together. Food is given through a vein, but not by mouth (parenteral nutrition), for a period of time before and after surgery until proper bowel function is established.

Genetic counseling is recommended for patients and their families. Other treatment is symptomatic and supportive.

• < previous section
• Next section>

• < previous section
• Next section>

Clinical Trials and Research

Information about current clinical trials is posted on the Internet:www.clinicaltrials.gov. All research funded by the US government, as well as some research supported by private industry, is published on this government website.

For information about clinical trials conducted at the NIH Clinical Center in Bethesda, Maryland, please contact the NIH Office of Patient Recruitment:

Toll Free: (800) 411-1222
TTY Phone: (866) 411-1010
e-mail:[email protected]

Some current clinical trials are also published on the following pages of the NORD website:https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/

For information on clinical trials sponsored by private sources, please contact:www.centerwatch.com

For information on clinical trials conducted in Europe, please contact:
https://www.clinicaltrialsregister.eu/

• < previous section
• Next section>

• < previous section
• Next section>

reference

the Internet
Wesson DE. Intestinal atresia. up to date. Updated: March 25, 2020.https://www.uptodate.com/contents/intestinal-atresiaConsulted May 27, 2020.

Jonathan PR and Stig S. Intestinal atresia. Cancer Treatment Consultant.www.cancertherapyadvisor.com/home/decision-support-in-medicine/pediatrics/intestinal-atresia/Consulted May 14, 2020.

Jejunal atresia. Genetic and Rare Disease Information Center. Last updated: October 26, 2016.https://rarediseases.info.nih.gov/diseases/6799/jejunal-atresiaConsulted May 14, 2020.

Jejunal atresia. Jejunal Atresia | Nicklaus Children's Hospital. June 21, 2019.https://www.nicklauschildrens.org/conditions/jejunal-atresia. Consulted May 14, 2020.

Ye Yun was locked. Online Mendelian Inheritance in Humans (OMIM). 11/03/2https://www.omim.org/entry/243600Consulted May 14, 2020.

• < previous section
• Next section>

Programs and Resources

• aid program
• patient organization