Department of Laboratory Medicine and Pathology, Children's Hospitals and Clinics of Minnesota, Minneapolis.
Department of Pathology, Microbiology & Immunology, Division of Pediatric Pathology, Vanderbilt University Medical Center, Nashville, TN.
Am J Clin Pathol. 2019 Nov 4;152(6):742-746. doi: 10.1093/ajcp/aqz091.
Disaccharidase (DS) activity in duodenal biopsy specimens is the gold standard for diagnosing DS deficiency. We investigated strategies to reduce the need for DS testing and whether clinical or histopathologic factors predict DS deficiency.
A retrospective chart review analyzed 1,678 DS results in children, biopsy indication(s), and duodenal histopathology.
One or more DSs were abnormal in 42.8%. Sufficient lactase predicted sucrase, palatinase, and maltase sufficiency (negative predictive value 97.7%). Three patients had sucrase-isomaltase deficiency (0.2%). DS deficiency was more common in biopsy specimens for positive celiac serology (78.0%). Villous blunting, intraepithelial lymphocytosis, and active inflammation predicted DS deficiency; a combination of any two had an 81.4% positive predictive value.
Utilization could be reduced by only testing cases with normal duodenal histopathology and ongoing clinical suspicion for DS deficiency after reviewing pathology. In cases with suspected celiac disease and/or mucosal injury, DS deficiency is common and likely secondary, limiting test utility.
十二指肠活检中双糖酶（DS）活性是诊断 DS 缺乏症的金标准。我们研究了减少 DS 检测需求的策略，以及临床或组织病理学因素是否预测 DS 缺乏症。
回顾性图表分析了 1678 例儿童的 DS 结果、活检指征和十二指肠组织病理学。
42.8%的病例存在 1 种或多种 DS 异常。足够的乳糖酶可预测蔗糖酶、唾液酸酶和麦芽糖酶充足（阴性预测值 97.7%）。3 例患者存在蔗糖-异麦芽糖酶缺乏症（0.2%）。DS 缺乏症在伴有阳性乳糜泻血清学的活检标本中更为常见（78.0%）。绒毛变钝、上皮内淋巴细胞增多和活动性炎症预测 DS 缺乏症；任意两种结合的阳性预测值为 81.4%。
仅在进行组织病理学检查发现正常的情况下，可减少 DS 检测需求，并在临床怀疑 DS 缺乏症后复查病理。在疑似乳糜泻和/或黏膜损伤的情况下，DS 缺乏症很常见且可能是继发的，这限制了检测的实用性。
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