Indian Journal of Pathology and Microbiology
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Year : 2021  |  Volume : 64  |  Issue : 2  |  Page : 266-276

Estimation of plasma and RBC acetylcholinesterase in children: An evaluation tool for Hirschsprung's disease?

1 Department of Chemical Engineering, Indian Institute of Technology, Bombay, Powai, Maharashtra, India
2 Department of Pathology, St. John's Medical College, Bengaluru, Karnataka, India
3 Department of Paediatric Surgery, Indira Gandhi Institute of Child Health Hospital, Bengaluru, Karnataka, India

Correspondence Address:
Usha Kini
Translational Research Laboratory for Gut Motility Disorders, Department of Pathology, St. John's Medical College, Bengaluru - 560 034, Karnataka
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/IJPM.IJPM_567_19

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Background: Increased acetylcholinesterase (AChE) activity on frozen sections of rectal mucosal biopsies accurately diagnoses Hirschsprung disease (HD). But the quest for a biomarker in blood as a screening test prompts one to look for AChE in blood and study its role in HD diagnosis. Aim: To develop a low-cost reliable method to estimate the AChE activity in plasma and red blood cells (RBCs) in normal children (control) and study its role in HD (test). Materials and Methods: Optimized method derived after modifying and standardizing known AChE assay protocols for blood were employed on 30 controls to define the AChE cut-off range, on 40 suspected HD cases to categorize them as HD/non-HD based on cut-off values and later compared with gold standard tissue AChE histochemistry of rectal mucosal biopsies. Results: An optimal in-house modified methods of Ellman's was found best suited to analyze plasma AChE activity, method by Wilson and Henderson was optimal for extraction and AChE estimation in RBCs. AChE levels (controls) obtained were 1.03 ± 0.31 U/mL and 5.17 ± 1.52 U/mL in plasma and RBCs, respectively while the plasma AChE was 1.35 ± 0.84 U/mL (HD) and 1.62 ± 0.85 U/mL (non-HD) while RBC AChE was 4.29 ± 3.2 U/mL (HD) and 6.48 ± 4.31 U/mL (non-HD). Sensitivity was 66.67% and 55.56%, specificity was 22.73% and 45.45%, and an accuracy rate of 42.5% and 50% for plasma and RBC, respectively. Conclusions: Mutually exclusive AChE activity range identified for test blood samples overlapped with the normal and hence, not considered a diagnostic tool for HD.

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