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[Hereditary pancreatitis in a child]
Sílvia Freira1, Teresa Lourenço, Rita Cerqueira
1Hospital Dona Estefânia, Lisboa.
Insights
Hereditary pancreatitis, a genetic disorder, was identified in a family due to a PRSS1 gene mutation. This case highlights the importance of long-term monitoring for pancreatic cancer risk.
Area of Science:
- Genetics
- Gastroenterology
- Oncology
Background:
- Hereditary pancreatitis is characterized by a family history of pancreatitis and confirmed clinical, biochemical, or radiological evidence.
- Genetic mutations are a known cause of hereditary pancreatitis, necessitating detailed family studies.
Observation:
- A four-year-old child presented with recurrent pancreatitis, leading to the identification of a PRSS1 gene mutation (c.364C>T, p.R122C).
- The affected child's father also carried the R122C mutation and had a history of recurrent pancreatitis requiring a Whipple procedure.
- Diabetes mellitus was diagnosed in the paternal grandfather and his parents, suggesting a broader familial impact.
Findings:
- This study describes the fourth family with hereditary pancreatitis linked to the c.364C>T (p.R122C) mutation in the PRSS1 gene.
- The R122C mutation was found in heterozygosity in exon 3 of the PRSS1 gene in both the index case and his father.
Implications:
- Early identification and genetic testing are crucial for families with a history of pancreatitis.
- Long-term surveillance is essential due to the increased risk of developing pancreatic ductal adenocarcinoma in individuals with this mutation.
Abstract:
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.
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