CFTR and cationic trypsinogen mutations in idiopathic pancreatitis and neonatal hypertrypsinemia.
OBJECTIVE
The CFTR gene has been shown to be involved in sporadic idiopathic pancreatitis (IP) and neonatal hypertrypsinemia with normal sweat chloride test (NHNST). The cationic trypsinogen gene (Try4) is responsible for hereditary pancreatitis. The aim of the present study was to find a correlation between mutations in the two genes and the two phenotypes.


METHODS
Analysis of some known gene mutations and complete gene screening by denaturing gradient gel electrophoresis and DNA sequencing were undertaken. Thirty-two sporadic IP patients were investigated for the CFTR study, while 13 sporadic IP patients plus 4 hereditary pancreatitis families (24 tested individuals) were examined for the Try4 study. Fifty neonates with NHNST were investigated for the study of both genes.


RESULTS
CFTR mutations were more frequently observed in sporadic IP cases with a common cystic fibrosis mutation or borderline sweat chloride than in cases with a negative sweat test. Try4 mutations were found in 1 out of the 13 sporadic IP cases tested.


CONCLUSIONS
The CFTR gene may be involved in IP and NHNST, while the Try4 gene may be involved in IP, but not in NHNST, in this limited series of observations.
Gomez Lira
M
M
Department of Mother and Child, Biology and Genetics, University of Verona, Strada Le Grazie, 8, I-37134 Verona, Italy.
Patuzzo
C
C
Castellani
C
C
Bovo
P
P
Cavallini
G
G
Mastella
G
G
Pignatti
P F
PF
D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000097:blood / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000097:blood* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D015997:Neonatal Screening; D010195:Pancreatitis / Q000097:blood / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D011110:Polymorphism, Genetic / Q000235:genetics; D013542:Sweat / Q000737:chemistry; D014357:Trypsin / Q000097:blood / Q000235:genetics*; D014362:Trypsinogen / Q000097:blood / Q000235:genetics*
C505032:CFTR protein, human; C064831:PRSS2 protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D014362:Trypsinogen; D014357:Trypsin