Agenesis of the dorsal pancreas

Other Names: Pancreas, dorsal, agenesis of; Pancreas agenesis, dorsal; Complete agenesis of the dorsal pancreas; Partial agenesis of the dorsal pancreas; Congenital short pancreas; Congenital pancreatic agenesis; Partial pancreatic agenesis

Agenesis of the dorsal pancreas describes a congenital malformation of the pancreas in which either the entire dorsal pancreas or part of the dorsal pancreas fails to develop (complete agenesis or partial agenesis, respectively).

Epidemiology

In the literature, about 23 cases of partial agenesis of dorsal pancreas were reported between 1913 and 2007.

Cause

Partial or complete agenesis of the dorsal pancreas results from the failure of the dorsal pancreatic bud to form the body and tail of the pancreas in the developing fetus. It may occur from the absence, or regression of, the dorsal bud during fetal development. Heredity may play a role in the development of this condition, but further research is needed to clarify this.

There have been reports in the literature of the condition being associated (rarely) with other congenital diseases, specifically a very rare disorder called polysplenia/heterotaxy syndrome. In this case, it may occur due to errors in development of the asymmetric organs and may be associated with benign to severe congenital cardiac (heart) malformations.

Inheritance

It may occur in individuals with no history of the condition in the family (sporadically) and in some cases, autosomal dominant or X-linked dominant inheritance has been suggested.

Signs and symptoms

Some individuals experience no symptoms, while others may develop hyperglycemia, diabetes mellitus, bile duct obstruction, abdominal pain, pancreatitis, or other conditions. Hyperglycemia has been shown to be present in approximately 50% of affected individuals.

Diagnosis

In the differential diagnosis of pseudo-agenesis, histories of previous abdominal pain, pancreatitis, CT scanning and the serum amylase level may be helpful.

The complete absence of the dorsal duct and demonstration of short ventral duct is important in the diagnosis of the dorsal bud agenesis.Abdominal CT may not evaluate the pancreatic duct in adetailed fashion. Therefore ERCP or MRCP is necessary for revealing the major and the accessory duct systems.ERCP is an invasive technique. It might challenge the cannulation of the minor papilla in selected cases. There is also radiation risk to the patient. MRCP can help the diagnosis of the dorsal pancreatic agenesis noninvasively with no radiation risk.

Treatment

Because agenesis of the dorsal pancreas is considered rare and few cases have been reported in the literature, there is limited information about how the condition as a whole might be treated or managed. However, there is current information about how some of the signs and symptoms associated with agenesis of the dorsal pancreas (such as pancreatitis) may be managed.

For pancreatitis, individuals may be able to make themselves more comfortable during an attack, but they will most likely continue to have attacks until treatment is received for the underlying cause of the symptoms (when possible). If symptoms are mild, people might try the following preventive measures: stopping all alcohol consumption; adopting a liquid diet consisting of foods such as broth, gelatin, and soups (these simple foods may allow the inflammation process to get better); over-the-counter pain medications; and avoiding pain medications that can affect the liver (such as acetaminophen). Medical treatment is usually focused on relieving symptoms and preventing further aggravation to the pancreas. Certain complications of either acute pancreatitis or chronic pancreatitis may require surgery or a blood transfusion.

In acute pancreatitis, the choice of treatment is based on the severity of the attack. Most people who are having an attack of acute pancreatitis are admitted to the hospital for oxygen (if having trouble breathing) and an intravenous (IV) line for medications and fluids. If needed, medications for pain and nausea may be prescribed. It may be recommended that no food or liquid is taken by mouth for a few days (this is called bowel rest). Some people may need a nasogastric (NG) tube to remove stomach juices which rests the intestine further, helping the pancreas recover. If the attack lasts longer than a few days, nutritional supplements may be administered through an IV line. In chronic pancreatitis, treatment focuses on relieving pain and avoiding further aggravation to the pancreas.

Hyperglycemia (high blood sugar) management may depend on the exact cause if the condition in the affected individual. Management may include checking blood sugar levels with a blood glucose meter; checking urine for ketones; and adopting strategies to lower blood sugar level. Strategies might include exercise (only if urine ketones are not present); diet as discussed with a diabetes health educator or registered dietitian; and/or medication (especially if diet and exercise are not keeping blood sugar levels in the normal range) which may include insulin and/or other medications. Individuals seeking treatment options for themselves or others should speak with their health care provider about an individualized treatment plan; the information here is provided for general educational purposes only.

NIH genetic and rare disease info

• NIH info on Agenesis of the dorsal pancreas

Agenesis of the dorsal pancreas is a rare disease.

Agenesis of the dorsal pancreas Resources
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