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A CLINICAL STUDY OF THE DIAGNOSIS OF CYSTIC FIBROSIS BY INSTRUMENTAL NEUTRON ACTIVATION ANALYSIS OF SODIUM IN NAIL CLIPPINGS
Author(s) -
KOLLBERG H.,
EKBOHM G.
Publication year - 1974
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1974.tb04819.x
Subject(s) - medicine , cystic fibrosis , nail (fastener) , pediatrics , neutron activation analysis , newborn screening , heterozygote advantage , genotype , chemistry , materials science , radiochemistry , metallurgy , biochemistry , gene
. Kollberg, H. and Ekbohm, G. (Department of Paediatrics, University Hospital, Uppsala, Sweden and Department of Statistics, University of Uppsala, Sweden). A clinical study of the diagnosis of cystic fibrosis by instrumental neutron activation analysis in nail clippings. Acta Paediatr Scand, 63: 411, 1974.–This article reports on the possibility of using instrumental neutron activation analysis (INAA) of sodium in nail clippings for diagnosing cystic fibrosis (CF) in children and adults, for detecting heterozygotes and for screening in the neonatal period. Nail clippings from 1322 newborns, 22 CF patients (two of them newborns), 52 healthy controls and 22 heterozygotes were analyzed. The discrimination between CF patients and controls was found to be precise for individuals above one year of age and INAA of nail clippings should be accepted as a diagnostic test for CF after this age. Heterozygotes could not be detected by the method. During the first five days of life there is a big overlap between the values from normal newborns and those of CF children, which makes the method invaluable for early screening for CF.