A Scoring System to Predict the Severity of Hirschsprung Disease at Diagnosis and Its Correlation With Molecular Genetics

• Published in: Pediatric and developmental pathology 2017-02, Vol.20 (1), p.28-37
• Main Authors: Núñez-Ramos, Raquel, Fernández, Raquel M, González-Velasco, Miguel, Ruiz-Contreras, Jesús, Galán-Gómez, Enrique, Núñez-Núñez, Ramón, Borrego, Salud
• Format: Article
• Language: English
• Subjects: Adolescent; Child; Child, Preschool; Female; Follow-Up Studies; Genetic Association Studies; Genetic Markers; Hirschsprung Disease - diagnosis; Hirschsprung Disease - genetics; Humans; Infant; Infant, Newborn; Logistic Models; Male; Mutation; Retrospective Studies; Sensitivity and Specificity; Severity of Illness Index
• ISSN: 1093-5266; 1615-5742
• DOI: 10.1177/1093526616683883

Objectives Hirschsprung disease (HSCR) has a wide range of severity. There are nonsevere forms treated conservatively until surgery and severe forms that require an early stoma and prolonged hospitalization. Our objective was to establish a clinical scoring system to predict the severity of HSCR and to evaluate the possible existence of a clinical-genetic correlation. Methods We carried out a retrospective observational study including all HSCR cases treated in our hospital. The sample was divided into severe and nonsevere disease according to the number of surgical procedures, hospitalization time, and episodes of enterocolitis. The proposed score was applied at diagnosis, and the sensitivity, specificity, and optimal cut-point were determined. We conducted a prospective molecular study of RET, EDNRB, and EDN3 on all patients, as well as SOX10 in Waardenburg Syndrome type 4 forms. Results Among the 42 patients treated between 1983 and 2013, 15 met the severe disease criteria. This group had a higher mean score (13.15 ± 2.36) than the nonsevere group (8.15 ± 2.13; p