Medicina is published by MDPI from Volume 54 Issue 1 (2018).
Articles in this Issue were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence.
Articles are hosted by MDPI on mdpi.com as a courtesy and upon agreement with Lithuanian Medical Association, Lithuanian University of Health Sciences, and Vilnius University.
Relevance of Nasal Potential Difference in Diagnosis of Cystic Fibrosis Among Children
by
Arūnas Valiulis 1,*, Iveta Skurvydienė 2, Valdonė Misevičienė 3, Jūratė Kasnauskienė 4, Laimutė Vaidelienė 3 and Algirdas Utkus 4
Arūnas Valiulis 1,*, Iveta Skurvydienė 2, Valdonė Misevičienė 3, Jūratė Kasnauskienė 4, Laimutė Vaidelienė 3 and Algirdas Utkus 4
1
Clinic of Children’s Diseases, Medical Faculty, Vilnius University
2
Tauragė District Hospital
3
Department of Children’s Diseases, Medical Academy, Lithuanian University of Health Sciences
4
Department of Human and Medical Genetics, Medical Faculty, Vilnius University, Lithuania
*
Author to whom correspondence should be addressed.
Medicina 2013, 49(4), 29; https://doi.org/10.3390/medicina49040029
Received: 20 October 2011 / Accepted: 30 April 2013 / Published: 5 May 2013
Objective. The aim of this study was to estimate the significance of nasal potential difference (NPD) in the diagnosis of cystic fibrosis (CF) in children with clinical symptoms suggestive of the disease, positive sweat test results, and/or genetically confirmed diagnosis.
Material and Methods. NPD measurements according to the modifications by Alton were performed in 50 children with clinical CF symptoms supported by positive sweat test results, 50 children with other obstructive lung diseases, and 50 healthy children. A subgroup of 17 children with the diagnosis confirmed by 2 identified mutations in the CF transmembrane regulatory gene was analyzed individually.
Results. The mean NPD value recorded in 50 children with clinical symptoms of CF supported by positive sweat test results and/or genetic analysis was –28.0 mV [SD, 10.2]. The mean NPD value in the subgroup of children with 2 identified mutations in the CF gene (n=17) was more negative than in the subgroup of children with unrecognized mutations (n=33) (–37.1 mV [SD, 7.0] vs. –23.4 mV [SD, 8.3], P<0.001). The mean NPD value in patients with other obstructive lung diseases and healthy children was significantly more positive than in the group of CF children with positive sweat test results and/or identified mutations (–18.1 mV [SD, 3.6] and –15.5 mV [SD, 4.3] vs. –28.0 mV [SD, 10.2], P<0.001). The NPD cut point value for the genetically confirmed diagnosis of CF was –35.0 mV (sensitivity, 93.9%; specificity, 88.2%), while in general, the NPD prognostic value was –24.0 mV (sensitivity, 58.0%; specificity, 98.0%)
Conclusions. The NPD measurement is a valuable tool for the diagnosis of CF in children, but further studies are necessary to establish NPD values related to the CF genotype and to reduce the intrasubject variability of this test.
Material and Methods. NPD measurements according to the modifications by Alton were performed in 50 children with clinical CF symptoms supported by positive sweat test results, 50 children with other obstructive lung diseases, and 50 healthy children. A subgroup of 17 children with the diagnosis confirmed by 2 identified mutations in the CF transmembrane regulatory gene was analyzed individually.
Results. The mean NPD value recorded in 50 children with clinical symptoms of CF supported by positive sweat test results and/or genetic analysis was –28.0 mV [SD, 10.2]. The mean NPD value in the subgroup of children with 2 identified mutations in the CF gene (n=17) was more negative than in the subgroup of children with unrecognized mutations (n=33) (–37.1 mV [SD, 7.0] vs. –23.4 mV [SD, 8.3], P<0.001). The mean NPD value in patients with other obstructive lung diseases and healthy children was significantly more positive than in the group of CF children with positive sweat test results and/or identified mutations (–18.1 mV [SD, 3.6] and –15.5 mV [SD, 4.3] vs. –28.0 mV [SD, 10.2], P<0.001). The NPD cut point value for the genetically confirmed diagnosis of CF was –35.0 mV (sensitivity, 93.9%; specificity, 88.2%), while in general, the NPD prognostic value was –24.0 mV (sensitivity, 58.0%; specificity, 98.0%)
Conclusions. The NPD measurement is a valuable tool for the diagnosis of CF in children, but further studies are necessary to establish NPD values related to the CF genotype and to reduce the intrasubject variability of this test.
Keywords:
cystic fibrosis; obstructive lung diseases; diagnosis; basal nasal potential difference; children
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited
MDPI and ACS Style
Valiulis, A.; Skurvydienė, I.; Misevičienė, V.; Kasnauskienė, J.; Vaidelienė, L.; Utkus, A. Relevance of Nasal Potential Difference in Diagnosis of Cystic Fibrosis Among Children. Medicina 2013, 49, 29.
Show more citation formats
Note that from the first issue of 2016, MDPI journals use article numbers instead of page numbers. See further details here.
