Mild Cystic Fibrosis. A Case Report
Context Cystic fibrosis is the most common autosomal recessive genetic disease in Caucasian population. Extending knowledge about the molecular pathology on the one hand allows better delineation of the mutations in the cystic fibrosis transmembrane regulator gene and the other to dramatically increase the predictive power of molecular testing. Case report This study wants to underline that the identification of individuals with atypical cystic fibrosis can sometimes present particular difficulties of interpretation. Conclusion On that ground, if there is a strong clinical suspicion, it is always advisable the biochemical study by performing the sweat test, followed by sequencing of the cystic fibrosis transmembrane regulator gene.
Image: Madonna delle Grazie Hospital. Matera, Italy.
Castellani C, Bonizzato A, Cabrini G, Mastella G. Newborn screening strategy for cystic fibrosis: a field study in an area with high allelic heterogeneity. Acta Paediatr 1997, 86:497-502. [PMID: 9183489]
Davies JC, Alton EW, Bush A: Cystic fibrosis. BMJ 2007; 335:1255-1259. [PMID: 18079549]
Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science1989; 245:1066-1073. [PMID: 2475911]
Rommens JM, Iannuzzi MC, Kerem B, Drumm ML, Melmer G, Dean M, Rozmahel R. Identification of the cystic fibrosis gene: chromosome walking and jumping. Science 1989; 245:1066-1073. Erratum in: Science 1989 Sep 29; 245:1437. [PMID: 2772657]
Cystic fibrosis mutation database [http://www.genet.sickkids.on.ca/app].
Amato F, Bellia C, Cardillo G, Ciaccio M, Elce A, Lembo F, Tomaiuolo R. Extensive molecular analysis of patients bearing CFTR-Related disorders. J Mol Diagn 2012; 14:81-9. [PMID: 22020151]
Copyright (c) 2015 Domenico Dell’Edera, Donatello Salvatore, Michele Benedetto, Antonio Lovaglio, Manuela Leo, Annunziata Anna Epifania
This work is licensed under a Creative Commons Attribution 4.0 International License.As a member of Publisher International Linking Association, PILA, iMedPub Group’s JOP follows the Creative Commons Attribution License and Scholars Open Access publishing policies. Journal of the Pancreas is the Council Contributor Member of Council of Science Editors (CSE) and following the CSE slogan Education, Ethics, and Evidence for Editors.