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Hereditary Pancreatitis: A Kindred Without Gross Aminoaciduria

PAUL DAVIDSON, M.D., F.A.C.P.; DAVID COSTANZA, M.D.; JOHN A. SWIECONEK, M.D.; and JOHN B. HARRIS, M.D.
Ann Intern Med. 1968;68(1):88-96. doi:10.7326/0003-4819-68-1-88
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SUMMARY:

A seventh kindred with hereditary pancreatitis is reported. Of the 71 members data were obtained on 55, and 18 of the 55 were examined by the authors. Six members had definite pancreatitis, and 5 had suspected pancreatitis. The mode of genetic transmission is non-sex-linked and appears to be autosomal dominant. The disease is characterized by onset in childhood of recurrent episodes of abdominal pain and is frequently accompanied by pancreatic calcifications, diabetes mellitus, and steatorrhea.

Comparison of this kindred with the six kindreds reported previously reveals many similarities. The present kindred and the five kindreds reported from the Mayo Clinic differ from the kindred reported from France in the clinical course, the pathologic state of the pancreas, and the results of surgery. The present kindred differs from those reported from the Mayo Clinic in that measurements of the alpha-amino nitrogen in the urine indicate that hereditary pancreatitis can exist in the absence of gross aminoaciduria. Aminoaciduria, measured by paper chromatography, was also absent in the kindred in France. While the findings may be similar in the various members of a kindred with hereditary pancreatitis, there may be differences among the kindreds.

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