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June 1975

Hereditary Pancreatitis: Nonspecificity of Aminoaciduria and Diagnosis of Occult Disease

Author Affiliations

From the Genetics Unit, Childrens Service, the Neurology and Surgery Services, Massachusetts General Hospital, and the departments of pediatrics, neurology, and surgery, Harvard Medical School, Boston. Dr. Riccardi is now at the University of Colorado Medical Center, Denver.

Arch Intern Med. 1975;135(6):822-825. doi:10.1001/archinte.1975.00330060066009

Hereditary pancreatitis appears in many different ways and in a variety of age groups, spanning both pediatric and adult medicine. The variable expression of hereditary pancreatitis is emphasized by the difficulty in diagnosing it in a patient obviously at risk because of a severely affected father and son. The morphine prostigmine test and hypotonic duodenogram were most helpful. Aminoaciduria previously associated with this disorder is coincidental or nonspecifically related to acute pancreatic inflammation. The increased risk for pancreatic carcinoma (about 20%) is emphasized by the concern for that complication in the proband's grandfather.