QOL Medical LLC, Vero Beach, Florida, United States of America.
University of Texas Health Science Center, Houston, Texas, United States of America.
PLoS One. 2024 Sep 18;19(9):e0310705. doi: 10.1371/journal.pone.0310705. eCollection 2024.
Congenital sucrase isomaltase deficiency (CSID), an inherited carbohydrate malabsorption disorder, is difficult to diagnose because of overlapping symptoms with other gastrointestinal (GI) diseases. An at-home study was conducted in CSID and healthy adults to evaluate the diagnostic utility of self-reported GI symptoms following administration of a sucrose challenge.
This study investigated the optimum symptom scoring with a sucrose challenge symptoms test (SCST) for diagnosing CSID in 45 confirmed patients and 118 healthy controls. Subjects self-reported the severity of GI symptoms using a 10-point Likert scale after ingesting 50 grams of sucrose on an empty stomach. The receiver operator characteristics curve (ROC) was used to identify the diagnostic variable with the highest Youden Index, a measure of diagnostic performance.
All six symptoms were significantly worse in the CSID group within 2 hours after the sucrose challenge. The diagnostic variable with the highest Youden Index was worsening in global symptoms scores at 1- and 2-hours (11.7 [CSID] vs 3.2 [Controls]; P<0.001.) Optimized by gender, the sensitivity and specificity for this diagnostic variable were 87% and 81%, respectively.
The SCST is a simple, non-invasive at-home test that can aid in a CSID diagnosis.
先天性蔗糖-异麦芽糖酶缺乏症（CSID）是一种遗传性碳水化合物吸收不良疾病，由于与其他胃肠道（GI）疾病的症状重叠，因此难以诊断。在 CSID 和健康成年人中进行了一项家庭研究，以评估在给予蔗糖挑战后自我报告的胃肠道症状在诊断 CSID 中的效用。
本研究通过蔗糖挑战症状测试（SCST）对 45 名确诊患者和 118 名健康对照者进行了研究，以评估蔗糖挑战后最佳症状评分是否有助于诊断 CSID。受试者在空腹状态下摄入 50 克蔗糖后，使用 10 分制 Likert 量表自我报告胃肠道症状的严重程度。使用受试者工作特征曲线（ROC）确定具有最高 Youden 指数的诊断变量，这是衡量诊断性能的指标。
在蔗糖挑战后 2 小时内，所有 6 种症状在 CSID 组中均明显恶化。具有最高 Youden 指数的诊断变量是在 1 小时和 2 小时时全球症状评分恶化（11.7 [CSID] vs 3.2 [对照组]；P<0.001）。通过性别优化后，该诊断变量的灵敏度和特异性分别为 87%和 81%。
SCST 是一种简单、非侵入性的家庭测试，可以辅助 CSID 诊断。
