Herditary pancreatitis (HP) without amino-aciduria: Two new kindred

Abstract

HP, an autosomal dominant disorder with incomplete penetrance has been reported in 13 families and is characterized by chronic relapsing pancreatitis leading to pancreatic insufficiency, pancreatic calcifications, and at times diabetes. In 3 of the original families lysine-cystine amino-aciduria was present in some members regardless of pancreatic involvement.Our West Va. kindred (total 55 members) had 8 definite and 12 suspected cases of pancreatitis, mean age of onset 5 yrs.: 7 of 8 definite cases had pancreatic lithiasis, in 3 instances before 13 yrs. of age. Our Tenn. kindred (total 110 members) had 9 definite and 12 suspect cases, mean age of onset 14 years, with 6 of 9 definit cases presenting calcifications. There was striking variation in age of onset from 18 mos. to 35 yrs. Steatorrhea and pancreatic deficiency tended to be a late complication but they were found as early as 20 yrs. of age. There was no good clue as to what brought on acute attacks.In both kindred fecal fat, pancreatic enzymes, and serum amylase and lipase were assessed. Serum lipids and parathyroid function by calcium infusion were normal. All urinary amino acids were determined in 7 patients and 9 relatives and were normal in all instances.HP is a generally unrecognized cause of pancreatitis in childhood and important in the differential diagnosis of recurrent abdominal pain and pancreatic lithiasis (e.g., from cystic fibrosis). It is speculated that two different genetic types of HP exist with and without amino-aciduria.