Desvaux-García M, Martín-de VC, García-Romero R

Language: Spanish
References: 14
Page: 153-155
PDF size: 206.87 Kb.

ABSTRACT

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.

REFERENCES

1. Arrudi-Moreno M, García-Romero R, Samper-Villagrasa P, Sánchez-Malo MJ, Martin-de-Vicente C. Cribado neonatal de fibrosis quística: análisis y diferencias de los niveles de tripsina inmunorreactiva en recién nacidos con cribado positivo. An Pediatr (Barc). 2021; 95 (1): 11-17.

2. Farrell PM, Rosentein BJ, White TB, Accurso FJ, Castellani C, Cutting GR et al. Guidelines for diagnosis of cystic fibrosis in newborns through older adults: cystic fibrosis foundation consesus report. J Pediatr. 2008; 153: S4-S14.

3. Chen Q, Shen Y, Zheng J. A review of cystic fibrosis: Basic and clinical aspects. Animal Model Exp Med. 2021; 4(3): 220-232.

4. Crossley JR, Elliott RB, Smith PA. Dried-blood spot screening for cystic fibrosis in the newborn. Lancet. 1979; 1(8114): 472-474.

5. Hernández GG. Cribado neonatal de fibrosis quística. Anales de Pediatría Continuada. 2014; 12(1): 34-38.

6. Gartner S, Mondéjar-López P, Asensio de la Cruz O. Protocolo de seguimiento de pacientes con fibrosis quística diagnosticados por cribado neonatal. An Pediatr (Barc). 2019; 90(4): 251.e1-251.e10.

7. Fajac I, Wainwright CE. New treatments targeting the basic defects in cystic fibrosis. Presse Med. 2017; 46(6 Pt 2): e165-e175.

8. Naehrig S, Chao CM, Naehrlich L. Cystic fibrosis. Dtsch Arztebl Int. 2017; 114(33-34): 564-574.

9. Cutting GR. Cystic fibrosis genetics: from molecular understanding to clinical application. Nat Rev Genet. 2015; 16(1): 45-56.

10. Wiencek JR, Lo SF. Advances in the diagnosis and management of cystic fibrosis in the genomic era. Clin Chem. 2018; 64(6): 898-908.

11. Férec C, Scotet V. Genetics of cystic fibrosis: basics. Arch Pediatr. 2020; 27(1): eS4-eS7.

12. Meng X, Clews J, Kargas V, Wang X, Ford RC. The cystic fibrosis transmembrane conductance regulator (CFTR) and its stability. Cell Mol Life Sci. 2017; 74(1): 23-38.

13. Férec C. Cystic fibrosis: From gene discovery to precision medicine. Med Sci. 2021; 37(6-7): 618-624.

14. Egan ME. Genetics of cystic fibrosis: clinical implications. Clin Chest Med. 2016; 37(1): 9-16.