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Revista mexicana de pediatría
versión impresa ISSN 0035-0052
Resumen
DESVAUX-GARCIA, Miriam; MARTIN-DE VICENTE, Carlos y GARCIA-ROMERO, Ruth. Immunoreactive trypsin for the detection of cystic fibrosis patients. Rev. mex. pediatr. [online]. 2023, vol.90, n.4, pp.153-155. Epub 05-Nov-2024. ISSN 0035-0052. https://doi.org/10.35366/114765.
Introduction:
cystic fibrosis (CF) is an autosomal recessive inherited disease.
Objective:
to describe the benefit of determination of immunoreactive trypsin (IRT) for the detection of CF, as part of neonatal screening.
Case presentation:
eight-month-old infant with two episodes of hyponatremic dehydration. With this history, CF was suspected since he had also high serum levels of IRT (130 ng/L). A genetic study confirmed CF, identifying a probably pathogenic variant in the CFTR gene.
Conclusions:
elevated TIR levels can help identify CF cases, from the neonatal period.
Palabras llave : cystic fibrosis; immunoreactive trypsin; metabolic alkalosis; neonatal screening.
