| Autor: |
Николова, М., Колева, К., Рашева, Н., Гълъбова, M., Стоянова, М., Иванов, Г., Добруджанска, Н., Георгиева, М. |
| Zdroj: |
Pediatria; 2020, Vol. 60 Issue 4, p49-52, 4p |
| Abstrakt: |
Introduction: Cystic fibrosis (CF) is the most common lifelimiting autosomal recessive condition in Caucasians. It is caused by array of mutation in the gene encoding the cystic fibrosis transmembrane conductance regulator (CFTR) protein. Dysfunction of CFTR leads to a wide array of manifestations and complications. Pancreatitis is an infrequent complication among patients with CF. The presentation of pancreatitis in patients with CF is no different from that in the general population. Case Presentation: We report a 4-year-old boy who initially presented with recurrent pancreatitis - upper abdominal pain in the absence of weight loss, fever or pulmonary symptoms. At the time of initial presentation, the patient’s serum lipase and amylase were 2986U/I and 1033U/I. The first sweat test was normal. He was diagnosed with CF after a second (pathological) sweat test suggested possible CF and two known CF-causing mutations (ΔF508 and L997F) were detected by extended CFTR mutation analysis. Conclusion: CFTR mutations should be considered in cases of chronic or recurrent pancreatitis regardless of a negative sweat test. Children with L997F/ΔF508 CFTR mutations may present with recurrent pancreatitis, lacking any other symptoms of CF.. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
|
