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Iranian Journal of Pediatrics
Tehran University of Medical Sciences Press
ISSN: 1018-4406
EISSN: 1018-4406
Vol. 25, No. 2, 2015, pp. 1-9
Bioline Code: pe15027
Full paper language: English
Document type: Research Article
Document available free of charge

Iranian Journal of Pediatrics, Vol. 25, No. 2, 2015, pp. 1-9

 en Evaluation of Calretinin as a New Marker in the Diagnosis of Hirschsprung Disease
Anbardar, Mohammad Hossein; Geramizadeh, Bita & Foroutan, Hamid Reza


Background: Hirschsprung’s disease (HD) is a congenital intestinal motility disorder with absence of ganglion cells in the colonic wall. Diagnosis of the disease is mainly based on the identification of the lack of ganglion cells in the pathology sections of the colon which is very difficult and time consuming and also needs several serial cut sections. There are many proposed markers in this field in the literature but none of them has been satisfactory. Calretinin immunohistochemistry (IHC) has been introduced as a new diagnostic marker to overcome the problems in diagnosis of this disease about 5 years ago. However there are few studies regarding the benefits and pitfalls of this marker.
Objectives: The aim of this study is to determine the diagnostic value of calretinin IHC in detecting aganglionosis (HD).
Patients and Methods: 27 HD patients and 28 non-Hirschsprung’s disease (NHD) patients were collected in a prospective study and calretinin IHC was performed on 31 aganglionic and 51 normoganglionic full wall thickness sections of colectomies (some of the cases had more than 1 section). The IHC slides were evaluated by two pathologists and the diagnostic value was calculated in comparison with gold standard which is the presence or absence of ganglion cells in serial Hematoxylin and Eosin (HE) stained sections of the colectomies.
Results: There was great concordance between the final diagnosis of both pathologists and gold standard (k > 0.9). Calretinin immunostaining showed 100% specificity and positive predictive value and more than 90% sensitivity and negative predictive value. High agreement was present between the two pathologists (k > 0.9).
Conclusions: Calretinin IHC is a very convenient, useful and valuable method to demonstrate aganglionosis in HD patients. Loss of calretinin immunostaining in lamina propria and submucosa is characteristic of HD.

Hirschsprung Disease; Immunohistochemistry; Ganglion Cells

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