Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.4.21.1 (chymotrypsin)
 10,938 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Neonatal cystic fibrosis (CF) screening has been performed in New Zealand for a total of 7 years. This study reports the experience with this procedure in New Zealand over a 4 year period and compares it with 2 years when diagnoses of CF were suggested by clinical features only. A total of 72 infants were confirmed as having CF during 4 years of screening. Twenty-eight infants were found to have CF during 2 years in which screening was not performed. There were 29 false positive diagnoses during the screening years and six false negative diagnoses. Three of the false negative diagnoses occurred because of laboratory error, but three occurred because either the first or second measurement of immunoreactive trypsinogen (IRT) was normal. Faecal chymotrypsin was measured in samples from 434 infants at the time of the second IRT and assisted with the diagnosis for one infant which might otherwise have been missed. Only 42.5% of infants were asymptomatic at the time of the confirmatory sweat test. Significant morbidity and mortality was associated with meconium ileus which occurred in 24% of infants with CF. Improved ascertainment of cases of CF has occurred since screening began. Further follow-up is required to determine other benefits of newborn screening.
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PMID:Experience with neonatal screening for cystic fibrosis in New Zealand using measurement of immunoreactive trypsinogen. 276 37

Specimens of meconium and random stools were collected sequentially from 25 healthy newborn babies over the first 8-14 days of life. The stool chymotrypsin concentrations increased from birth to a maximum at 4 days of age and then fell again over the next four days. The lowest individual stool concentrations either side of the four day peak were both, coincidentally, 120 micrograms/g stool. In a second group of 22 newborn babies suspected of meconium ileus and later confirmed to have cystic fibrosis, faecal chymotrypsin concentrations were all appreciably reduced. In eight babies, also with suspected meconium ileus but with negative sweat tests, chymotrypsin concentrations were within the healthy newborn range. Measuring faecal chymotrypsin concentrations is a reliable procedure for identifying pancreatic exocrine insufficiency in the newborn.
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PMID:Faecal chymotrypsin concentrations in neonates with cystic fibrosis and healthy controls. 319 49