Carried by: FIMATHO
References:
Clinician(s): Vinciane REBOURS
Biologist(s): Claude FEREC, Emmanuelle MASSON
Presentation
Chronic pancreatitis (CP) is an inflammatory disease characterised by fibrosis and progressive, irreversible destruction of the pancreas. The main gene responsible for hereditary pancreatitis was identified in 1996. It is the PRSS1 gene, which codes for cationic trypsinogen. Subsequently, other genes have been implicated in the pathology. However, despite the study of all known genes, approximately 30% of hereditary CP cases remain unexplained, as do half of the young forms of idiopathic CP.
Criteria before considering a discussion in MDM-FMG
- Exclusion of other known and common causes of pancreatitis (toxic (alcohol and tobacco if ≥15pack-years), tumour, metabolic (hypercalcaemia, hypertriglyceridaemia), autoimmune and malformations). Biological analyses performed: calcium levels, triglyceride levels. Imaging: CT scan and MRI to check for malformations and tumours.
- Diagnosis of chronic pancreatitis by CT scan and MRI (calcifications, parenchymal atrophy, ductal abnormalities)
- Absence of causal mutations in the panel of 9 genes routinely studied (PRSS1, SPINK1, TRPV6, CFTR, CTRC, CaSR, CPA1 , CEL-HYB1 allele and PNLIP )
- Clinical presentation :
- Patients with or without a family history of idiopathic pancreatitis
- Diagnosis of chronic pancreatitis in patients <40 years old (or without age limit in case of family history of idiopathic pancreatitis or in case of calcifying pancreatitis)
Genome Sequencing in diagnostic strategy
MDM cartography
MDM
Type of the MDM
City of the coordinator
Name, first name, and email of the contact
MDM-FMG Chronic Pancreatitis
National
Clichy