[Acute recurrent pancreatitis and heterozygous mutation of the cystic fibrosis gene: a case report]

M V Vodoff; B Gilbert; C Piguet; D Sautereau; L de Lumley

doi:10.1016/S0929-693X(00)88834-X

[Acute recurrent pancreatitis and heterozygous mutation of the cystic fibrosis gene: a case report]

Arch Pediatr. 2000 Apr;7(4):388-90. doi: 10.1016/S0929-693X(00)88834-X.

[Article in French]

Authors

M V Vodoff¹, B Gilbert, C Piguet, D Sautereau, L de Lumley

Affiliation

¹ Service de pédiatrie 1, Hôpital Dupuytren, CHU, Limoges, France.

PMID: 10793926
DOI: 10.1016/S0929-693X(00)88834-X

Abstract

Recurrent pancreatitis is seldom associated with CFTR (Cystic Fibrosis Transmembrane Regulator) gene mutation.

Case report: A 17-year-old boy presented with isolated idiopathic pancreatitis. CFTR gene mutations study revealed delta F508 heterozygous mutation.

Conclusion: Mutations for the CFTR gene should be explored in case of recurrent pancreatitis.

Publication types

Case Reports
English Abstract

MeSH terms

Acute Disease
Adolescent
Cystic Fibrosis / complications
Cystic Fibrosis / genetics*
Cystic Fibrosis Transmembrane Conductance Regulator / genetics*
Heterozygote
Humans
Male
Pancreatitis / etiology*
Point Mutation
Recurrence

Substances

CFTR protein, human
Cystic Fibrosis Transmembrane Conductance Regulator