Letters to the editor
Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in neonatal hypertrypsinaemia with normal sweat test
| The first 150 words of the full text of this article appear below. |
EDITOR
Measurement of immunoreactive
trypsinogen concentration (IRT) in dried blood spots is the most common
technique for neonatal screening for cystic fibrosis
(CF).1 Since a considerable number of newborns show raised
IRT levels, several laboratories improve the screening specificity by
testing infants with hypertrypsinaemia for the most common CF
mutations. Diagnosis is established in neonates carrying two mutations,
but a sweat test is required if only one mutation is found, in order to
detect affected subjects with a second, unrecognised mutation. Infants
with raised IRT, one CF mutation, and normal sweat electrolyte
concentrations are usually considered to be just carriers.
Unexpectedly, a frequency of CF heterozygotes significantly higher than
in the general population has been repeatedly reported among neonates
with hypertrypsinaemia and normal sweat chloride levels.2 3 It is not clear whether having one CF
mutation, perhaps together with some unknown pathogenetic factor, is
sufficient to predispose to neonatal hypertrypsinaemia.
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