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Inherited Disorders and Birth Defects

Pancreatic agenesis

04/29/2008

Question:

My 10-month-old was recently diagnosed as not having a pancreas and complication in the portal vein. What are the complications arising from this and what possible treatment options and surgeries are available and what hospitals perform these? She has been on insulin for her diabetes management and has started on pancreatic enzymes. I would very much appreciate your response and your help.

Answer:

Congenital pancreatic agenesis (being born without a pancreas) is a very rare birth defect. The pancreas is a gland that sits somewhat behind the large intestine and lies across the upper abdomen (stomach). It has two parts: one part of the gland secretes enzymes that are used for digestion; the other part secretes insulin. Because the pancreas has not formed, it cannot produce these enzymes and/or insulin. Children who have this condition need to take insulin for the rest of their lives. If the digestive enzymes are missing, these children also need to take replacement enzymes.

If the pancreas is absent, it may be due to a genetic mutation (change in the gene). This birth defect has been reported to be inherited as an autosomal recessive disorder. That is, anyone having the disorder has two abnormal genes which may have been inherited from the parents, one from the mother and one from the father.

From the information you provided, it appears that your daughter is receiving the care she needs from her doctors. I do not know about surgery for children with this condition.

You might want to talk to a medical geneticist or genetic counselor to discuss the possibility of this being a genetic problem. Also, they may be able to suggest experts in this field. You can locate a genetics center near you at the National Society of Genetic Counselors' Resource Center website below.

Below is an article from the literature by Dr. Stoffers who is a researcher at the University of Pennsylvania School of Medicine in Philadelphia. She has done research about the gene that causes this problem.

References:

Stoffers, DA, Zinkin NT, Stanojevic V, Clarke WL, Habener JF (1997). Pancreatic agenesis attributable to a single nucleotide deletion in the human IPF1 gene coding sequence. Nature Genet. 15:106-110.

Related Resources:

National Society of Genetic Counselors Resource Center

For more information:

Go to the Inherited Disorders and Birth Defects health topic, where you can:

Response by:

Anne   Matthews, RN, PhD Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University