 |
NetWellness provides the highest quality health information and education services created and evaluated by faculty of our partner universities.
Saturday, July 19, 2008
|
|
|
NetWellness provides the highest quality health information and education services created and evaluated by faculty of our partner universities.
Saturday, July 19, 2008
|
Inherited Disorders and Birth Defects |
Pancreatic agenesis04/12/2008 09:33PM |
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.
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.
|
Anne Matthews, RN, PhD Director, Genetic Counseling and Family Studies Assistant Professor Department of Genetics School of Medicine Case Western Reserve University |
|
|
|
Please note: only your personal physician or other health professional you consult can best advise you on matters of your health based on your medical history, your family medical history, your medication history, and how information from any of these databases may apply to you. Neither University of Cincinnati (NetWellness) nor any party involved in creating, producing or delivering this web site shall be liable for any damages arising out of access to or use of this web site, or any errors or omissions in the content thereof. (More) |