Perbandingan Nilai Diagnostik Calretinin dengan S100 sebagai Marker Imunohistokimia dalam Menegakkan Diagnosa Hirschsprung Disease di RS Adam Malik Medan

Abstract

Background: Hirschsprung Disease (HSCR) is a congenital disorder due to neural crest cell migration failure, causing ganglion cell absence in the distal bowel segment and functional obstruction with incidence 1:5000 live births, more common in males. Conventional HE histopathology as gold standard is often limited by immature ganglion cells or thin submucosa, requiring immunohistochemistry markers calretinin (negative in aganglionic segments) and S100 (highlights nerve trunk hypertrophy). Methods: Observational analytic cross-sectional study on 64 patients <18 years with rectal HSCR biopsy at RS Adam Malik (2022-2025), consecutive sampling. HE, calretinin, and S100 slides evaluated by researcher and two pathologists; analysis included descriptive statistics, chi-square (p<0.05 significant). Results: Of 64 subjects, 41 (64%) were male and 34 (53.1%) aged <1 year. HE+calretinin confirmed HSCR in 45 (70.3%) cases, HE+S100 in 55 (85.9%) cases (p=0.002). Calretinin showed sensitivity 97.7%, specificity 89.4%, AUC 0.89; S100 demonstrated sensitivity 78.1%, specificity 66.6%, AUC 0.88. Conclusion: Calretinin exhibits superior diagnostic value (higher sensitivity/specificity) compared to S100, supporting its use as single cost-effective immunohistochemistry marker complementing HE for accurate HSCR diagnosis, particularly in neonates.