Children's Colorado Doc Collaborates with Investigators to Find Genetic Link to Congenital Disorder
Ed Hoffenberg, M.D., Professor of Pediatrics in the Digestive Health Institute of Children’s Colorado, has collaborated with a group of international investigators to identify a gene as the cause for congenital short bowel syndrome. The research findings were published in the March issue of the journal Gastroenterology.
Treating patients with congenital short bowel syndrome
Of the seven patients (from five families) identified to participate internationally, one was treated by Dr. Hoffenberg and others in the Digestive Health Institute. Aria Bleodorn, 14, of Ft. Collins, was brought to Children’s Colorado when she was five days old and was diagnosed with congenital short bowel syndrome. See a list of digestive, pancreas and nutrition conditions we treat.
This rare disorder causes infants to be born with an extremely shortened small intestine, about a quarter of the normal length. These babies have life-threatening diarrhea and nutritional deficiencies.
Abby and Eric Bleodorn, Aria’s parents (pictured above), lost their first child to what they highly suspect was congential short bowel syndrome. Aria spent nearly three months at Children’s Colorado and underwent the Ladd’s procedure to help correct intestinal malrotation when she was less than a week old.
Today, Aria is a healthy 5’8”-tall eighth-grader who earns straight A’s and plays lacrosse.
“We hope to find out if Aria is a carrier of this gene and if she will be able to have healthy children,” Abby said.
Research breakthrough provides hope to congenital short bowel syndrome patients
All of the patients in the study were found to have alterations in the CLMP gene. This gene is responsible for a protein that is widely expressed in many tissues during development and is important in cell-cell adhesion and possibly in cell proliferation.
A zebrafish model, in which the zebrafish CLMP expression is altered, produced offspring with a shortened intestine confirming the likelihood that this gene causes congenital short bowel syndrome.
“This finding provides a model to study intestinal growth,” said Dr. Hoffenberg. “Importantly, it may provide a direction to develop new therapies to promote intestinal growth and lengthening, which have the potential to be helpful in treating infants with congenital short bowel syndrome and children or adults with acquire short bowel syndrome.”
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