[Hereditary pancreatitis in a child].
Hereditary pancreatitis is defined as a family history of two or more relatives with pancreatitis and clinical, biochemical, or radiologic evidence of pancreatitis. This is the fourth family described with hereditary pancreatitis related to mutation c.364C>T (p.R122C) of PRSS1 gene. The index case was a four year old child who had had his first episode of abdominal pain at age three. At that time he was admitted in hospital for two days and he improved with analgesic treatment only. One year later, in a second similar episode, he had been diagnosed with pancreatitis. His father was submitted to pancreato-duodenectomy (Whipple procedure) when he was 27 years old due to recurrent pancreatitis since age 19. Paternal grandfather and the parents of this grandfather had been diagnosed with diabetes mellitus. The mutation R122C was present in heterozigoty, in the exon 3 of PRSS1 gene, in the index case and also in his father. The importance of a long term follow-up is highlighted, taking into consideration the risk of ductal pancreatic adenocarcinoma.
Freira
Sílvia
S
Hospital Dona Estefânia, Lisboa.
Lourenço
Teresa
T
Cerqueira
Rita
R
Tavares
Purificação
P
Pereira
Gabriela
G
Barata
Deolinda
D
Cabral
José
J
D002675:Child, Preschool; D006801:Humans; D008297:Male; D010195:Pancreatitis / Q000235:genetics*; D010375:Pedigree