CFSPID – czyli pozytywny wynik przesiewu noworodkowego, ale niejednoznaczna diagnoza mukowiscydozy

Publication date: Available online 19 March 2016 Source:Pediatria Polska Author(s): Dorota Sands, Ewa Tramś, Katarzyna Zybert Chloride channel dysfunction caused by pathogenic mutations in the CFTR gene leads to clinical symptoms of cystic fibrosis. With the development of techniques of molecular diagnostics, the number of discovered mutations has increased. Not every change in the CFTR gene causes clinical symptoms. The course of disease is variable, and it may also present in adulthood. The introduction of neonatal screening has led to creation of a new group of potential patients – children without symptomatic disease, but with presence of a mutation of the CFTR gene and/or borderline values of chloride in sweat. These patients should be reviewed periodically by a specialist, as it is not known whether, when and how they will present with cystic fibrosis. Therefore, it is not always possible to make a clear diagnosis of cystic fibrosis during screening. There is a need to separate full-blown cases of cystic fibrosis from “uncertain” and “ambiguous”. In Europe, the term CFSPID – Cystic Fibrosis Screen Positive, Inconclusive Diagnosis was created, whereas the American equivalent is CRMS – CFTR-Related Metabolic Syndrome. This includes patients with a positive IRT test, 1 or 2 CFTR mutations (of which one of them is not determined as a mutation causing cystic fibrosis) and elevations of chloride in sweat, not exceeding, however, the lower limit of the...
Source: Pediatria Polska - Category: Pediatrics Source Type: research