Castellani Carlo, Tridello Gloria, Tamanini Anna, Assael Baroukh M
Cystic Fibrosis Center, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
Clinical Chemistry and Hematology Laboratory, Azienda Ospedaliera Universitaria Integrata, Verona, Italy.
Arch Dis Child. 2017 Jul;102(7):644-646. doi: 10.1136/archdischild-2015-309348. Epub 2016 Jan 11.
Newborns with raised immunotrypsinogen levels who have non-pathological sweat chloride values and carry two cystic fibrosis transmembrane regulator () mutations of which at least one is not acknowledged to be cystic fibrosis (CF)-causing are at risk of developing clinical manifestations consistent with CFTR-related disorders or even CF. It is not known whether newborns with similar genotypes and normal immunoreactive trypsinogen (IRT) may share the same risk. This study found that newborns with these characteristics and normal IRT have lower sweat chloride values than those with raised IRT (p=0.007).
免疫胰蛋白酶原水平升高、汗液氯化物值无病理改变且携带两个囊性纤维化跨膜传导调节因子(CFTR)突变(其中至少一个不被认为是导致囊性纤维化(CF)的突变)的新生儿,有发生与CFTR相关疾病甚至CF一致的临床表现的风险。尚不清楚具有相似基因型和正常免疫反应性胰蛋白酶原(IRT)的新生儿是否有相同的风险。本研究发现,具有这些特征且IRT正常的新生儿汗液氯化物值低于IRT升高的新生儿(p=0.007)。