Fransson Emma, Granéli Christina, Hagelsteen Kristine, Tofft Louise, Hambraeus Mette, Munoz Mitev Rodrigo Urdar, Gisselsson David, Stenström Pernilla
Department of Pediatric Surgery, Institution of Clinical Sciences, Skåne University Hospital, Lund University, 22185 Lund, Sweden.
Clinical Genetics and Pathology, Laboratory Medicine Skåne, University Hospital, 22185 Lund, Sweden.
Children (Basel). 2022 Jan 18;9(2):124. doi: 10.3390/children9020124.
BACKGROUND/AIM: Diagnostic efficacy, defined as the percentage of rectal suction biopsy (RSB) specimens sufficient enough to determine the absence of ganglia cells in Hirschsprung's disease (HD) diagnosis, has been reported to be low, requiring repeated biopsies. The aim was to explore whether RSB diagnostic efficacy was influenced by the child's weight and to ascertain whether RSB efficacy differed between aganglionic and ganglionic tissue.
Efficacy analyses were conducted in a national HD-center's register on children 0-15 kg, examined between 2011-2019. First-time RSB diagnostic efficacy was correlated to the children's weight and final HD diagnosis.
Among the 84 children who had first-time RSB, the overall diagnostic efficacy was 85% (71/84). The efficacy was higher among children weighing less than the identified cut-off of 9.0 kg (89% in 0-9.0 kg versus 62% in 9.01-15.0 kg, = 0.026). Among children diagnosed with HD, 96% (26/27) weighed 0-9.0 kg. In this weight group, the diagnostic efficacy was lower in aganglionosis compared to ganglionosis (77%; 20/26 versus 96%; 43/45), = 0.045).
The RSB diagnostic efficacy was significantly higher in children weighing less than 9.0 kg and was less in aganglionic compared to ganglionic tissue. Therefore, weight can be useful to predict RSB diagnostic efficacy.
背景/目的:诊断效能定义为直肠吸引活检(RSB)标本足以确定先天性巨结肠(HD)诊断中无神经节细胞的百分比,据报道该诊断效能较低,需要重复活检。目的是探讨RSB诊断效能是否受儿童体重影响,并确定无神经节组织和有神经节组织之间的RSB效能是否存在差异。
在一家全国性HD中心的登记册中,对2011年至2019年期间检查的0至15千克儿童进行效能分析。首次RSB诊断效能与儿童体重及最终HD诊断相关。
在84例首次进行RSB的儿童中,总体诊断效能为85%(71/84)。体重低于确定的9.0千克临界值的儿童中,诊断效能更高(0至9.0千克组为89%,9.01至15.0千克组为62%,P = 0.0