A case of hypertripsinogenemia with partial trisomy 13

Neonatal hypertrypsinogenemia (in screening and retest) should be regarded not only as a marker of cystic fibrosis, but also as a sign of other diseases and conditions, incl. structural chromosomal rearrangements. This will help to diagnose pathology in a timely manner and correct therapeutic measures at an earlier age. The article describes a clinical case of hypertrypsinogenemia with partial trisomy of chromosome 13. Various reasons for the increase in immunoreactive trypsin as part of neonatal screening are also considered. The data of a retrospective analysis of the case histories of patients with hypertrypsinogenemia are presented. 

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