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

Hirschsprung disease (HSCR) has a wide range of severity. There are non-severe 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 evalua...

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Bibliographic Details
Published in:Pediatric and developmental pathology 2016-01, Article 15-07-1669-OA.1
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
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Summary:Hirschsprung disease (HSCR) has a wide range of severity. There are non-severe 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. We carried out a retrospective observational study including all HSCR cases treated in our hospital. The sample was divided into severe and non-severe 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. 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 non-severe group (8.15±2.13; p
ISSN:1093-5266
1615-5742
DOI:10.2350/15-07-1669-OA.1