Familial pancreatic enzyme insufficiency.
A father and son with profound reduction of exocrine pancreatic activity and little visible pancreatic tissue on ultrasound or computed tomography are described. Both have some degree of liver disease, which is more marked in the son. The disorder, apparently familial, does not correspond to any reported previously.
D000681:Amylases / Q000172:deficiency*; D002675:Child, Preschool; D002760:Cholangiopancreatography, Endoscopic Retrograde; D005190:Family; D006801:Humans; D008049:Lipase / Q000172:deficiency*; D008099:Liver / Q000503:physiopathology; D008111:Liver Function Tests; D008297:Male; D010179:Pancreas / Q000002:abnormalities* / Q000000981:diagnostic imaging; D011537:Pruritus / Q000209:etiology; D014357:Trypsin / Q000172:deficiency*; D014463:Ultrasonography
D008049:Lipase; D000681:Amylases; D014357:Trypsin