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[Hereditary pancreatitis in a child]
Sílvia Freira1, Teresa Lourenço, Rita Cerqueira
1Hospital Dona Estefânia, Lisboa.
Acta Medica Portuguesa
|August 19, 2009
Summary
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.
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