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RELIABLE DIAGNOSIS OF THE MAJOR TYPE OF CYSTIC FIBROSIS WITH FIBROBLAST CULTURES A Double Blind Study
Author(s) -
HÖSLI P.,
KOLLBERG H.,
VOGT E.
Publication year - 1978
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.1651-2227.1978.tb17812.x
Subject(s) - cystic fibrosis , fibroblast , heterozygote advantage , medicine , alkaline phosphatase , endocrinology , genotype , pathology , cell culture , enzyme , biology , genetics , biochemistry , gene
. A double blind study has been carried out to demonstrate that the most common type of cystic fibrosis (CF) can be reliably diagnosed with skin‐derived fibroblast cultures. Alkaline phosphatase (AIP) activity has been measured in 6 normal controls, 12 CF‐heterozygotes and 6 CF‐homozygotes before and after stimulation with Tamm‐Horsfall‐glycoprotein (THP), isoproterenol and theophylline (“THP‐induction test”). The mean AIP‐activities after THP‐induction were 8.8, 12.7 and 34.6 for the three different genotypes respectively. There was no overlap between the values of CF‐homozygotes on the one hand, and the values of CF‐heterozygotes and normal controls on the other hand. All 24 specimens were correctly diagnosed in the present double blind study, indicating the very high degree of reliability of the THP‐induction test in the detection of the predominant type of cystic fibrosis with fibroblast cultures. Normal controls and CF‐heterozygotes could not be discriminated on an individual basis, but as a group the CF‐heterozygotes displayed higher AIP‐values.