通过新生儿筛查进行早期诊断对于改善囊性纤维化(CF)患者的临床结局至关重要。在资源有限的地区,无法进行新生儿筛查且与CF相关的发病率很高,临床工具,如palmaraquagenic皱纹(AW)已被考虑。我们报告了AW在2岁以下儿童中可能早期识别CF的实用性。
这项试点病例对照研究共纳入55名儿童,20,确认CF,10个CF载波,和25个健康对照。记录手浸入水中后的起皱时间(TTW),以及TTW之间的关系,人口统计学和临床变量,和验证的诊断测试进行了分析。
在2岁以下的儿童中观察到皱纹,与携带者或健康对照(12和14分钟,分别)。较高的免疫反应性胰蛋白酶原和汗液氯化物水平与较低的TTW相关(p<0.001)。在这个以白种人为主的队列中,F508del患儿的TTW最低。六分钟的手浸泡提供了85%的灵敏度和91%的特异性,建议这个年龄的实用和有效的测试持续时间。没有证据表明营养状况会影响TTW。
我们的数据证实了AW在CF中的作用,在幼儿中验证测试的实用性,并分析TTW之间的关系,免疫反应性胰蛋白酶原,汗液中的氯化物含量,和CF引起的突变。尽管有测试限制,在非筛查人群中疑似CF的儿童中,AW在早期转诊和诊断中的实用性需要进一步探索。
Early diagnosis via newborn screening is crucial to improve clinical outcomes in patients with cystic fibrosis (CF). In resource-limited areas where newborn screening is unavailable and CF-related morbidity is high, clinical tools such as palmar aquagenic wrinkling (AW) have been considered. We report the utility of AW for possible early identification of CF in children <2 years old.
This pilot case-control study included 55 total children, 20 with confirmed CF, 10 CF carriers, and 25 healthy controls. The time to wrinkling (TTW) after hand immersion in water was recorded, and relationships between TTW, demographic and clinical variables, and validated diagnostic tests were analyzed.
Wrinkling was observed in children <2 years of age, and median TTW was significantly lower among those with CF (3 min) compared to carriers or healthy controls (12 and 14 min, respectively). Higher immunoreactive trypsinogen and sweat chloride levels were associated with lower TTW (p < 0.001). In this predominantly Caucasian cohort, children with F508del had the lowest TTW. Six minutes of hand immersion offered a sensitivity of 85% and a specificity of 91%, suggesting a practical and effective test duration for this age. There was no evidence that nutritional status affected TTW.
Our data confirm the role of AW in CF, validate test utility among young children, and analyze relationships between TTW, immunoreactive trypsinogen, sweat chloride levels, and CF-causing mutations. Despite test limitations, in children with suspected CF from non-screened populations, utility of AW in enabling early referral and diagnosis needs further exploration.