Hereditary pancreatitis. Historical perspectives.
Clinically, hereditary pancreatitis was not distinguishable from any other cause of pancreatitis. But astute clinical observations demonstrated an evolution toward chronic pancreatitis that could develop into carcinoma in some patients. A chromosomal abnormality was identified on chromosome 7q35, and then three separate genetic abnormalities were identified. It is now understood that a defect in trypsinogen is at the basis of the anomaly, and further developments should help identify new therapeutic approaches.
Perrault
J
J
Department of Pediatrics, Mayo Medical School, Mayo Clinic and Foundation, Rochester, Minnesota, USA.
D002869:Chromosome Aberrations / Q000266:history*; D025063:Chromosome Disorders; D002897:Chromosomes, Human, Pair 7; D002908:Chronic Disease; D030342:Genetic Diseases, Inborn / Q000266:history*; D049673:History, 20th Century; D006801:Humans; D010195:Pancreatitis / Q000235:genetics / Q000266:history*