Aps Johan K M, Delanghe Joris, Martens Luc C
Department of Paediatric Dentistry and Special Care, University Ghent, Belgium.
Clin Chem Lab Med. 2002 Apr;40(4):345-50. doi: 10.1515/CCLM.2002.055.
It is estimated that about one in 24 Belgian Caucasians is a cystic fibrosis (CF) heterozygote. Until now, CF heterozygotes can only be identified by genetic decoding (e.g. Inno-Lipa CF2 test), as they cannot be phenotypically distinguished from the general population. The aim of this study was to evaluate differences in salivary electrolyte concentrations (calcium, bicarbonate, chloride, potassium, sodium and phosphate) and salivary osmolarity between CF homozygotes (n=41), CF heterozygotes (n=56) and healthy controls (n=65). Differences between the three groups were investigated by means of non-parametric tests. Several significant differences between the three study groups and among, as well as between, the different cystic fibrosis transmembrane regulator (CFTR) genotypes were observed. Significant differences in salivary electrolyte concentrations between individuals with delta F508 mutation and those without, and between CF homozygotes and heterozygotes were observed. The concentrations of several salivary electrolytes, and salivary osmolarity were significantly higher in CFTR genotype individuals. Differences in salivary electrolyte concentrations may partly explain differences in caries between the three study groups.
据估计，每24名比利时白种人中约有1人是囊性纤维化（CF）杂合子。到目前为止，CF杂合子只能通过基因解码（如Inno-Lipa CF2检测）来识别，因为它们在表型上无法与普通人群区分开来。本研究的目的是评估CF纯合子（n = 41）、CF杂合子（n = 56）和健康对照者（n = 65）之间唾液电解质浓度（钙、碳酸氢盐、氯、钾、钠和磷酸盐）和唾液渗透压的差异。通过非参数检验研究三组之间的差异。观察到三个研究组之间以及不同囊性纤维化跨膜传导调节因子（CFTR）基因型之间及相互之间存在若干显著差异。观察到有ΔF508突变的个体与没有该突变的个体之间以及CF纯合子和杂合子之间唾液电解质浓度存在显著差异。CFTR基因型个体的几种唾液电解质浓度和唾液渗透压显著更高。唾液电解质浓度的差异可能部分解释了三个研究组之间龋齿的差异。
