trypsinogen and Infant--Newborn--Diseases

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.. 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.. 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.. 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.

Topics: Cystic Fibrosis Transmembrane Conductance Regulator; DNA Mutational Analysis; Humans; Infant, Newborn; Infant, Newborn, Diseases; Mutation; Neonatal Screening; Pancreatitis; Pedigree; Phenotype; Polymorphism, Genetic; Sweat; Trypsin; Trypsinogen

To determine the effect of neonatal illness on immunoreactive trypsinogen (IRT) levels, the IRT values obtained in sick infants transferred to a neonatal intensive care ward were compared with those found in matched controls. IRT levels from dried blood spots collected on day 4-5 of life from 372 sick infants had a mean value of 0.095 log transformed multiples of the median, whilst controls had a mean of -0.013: a highly significant difference. Classification of the sick infants into principal diagnostic categories failed to show any group contributing disproportionately to the observation. In particular, the level of elevation observed in 33 infants with gut abnormalities such as bowel obstruction, duodenal atresia, exomphalos and gastroschisis, in which some degree of pancreatic obstruction might be expected, was not greater than in other hospitalised infants. These data show that sick infants are at increased risk of being identified by an IRT screening programme aimed at detecting infants with cystic fibrosis.

Topics: Gastrointestinal Diseases; Humans; Infant, Newborn; Infant, Newborn, Diseases; Trypsinogen