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Updated: May 19, 2026

Diagnosis of Hirschsprung's Disease by Immunostaining Rectal Suction Biopsies for Calretinin, S100 Protein and Protein Gene Product 9.5
Published on: April 26, 2019
Rectal suction biopsy to exclude the diagnosis of Hirschsprung disease
Christopher E Hayes1, David Kawatu, Shamlal Mangray
1Rhode Island Hospital, Providence, USA.
Objectives:
Hirschsprung disease (HD) is defined as the absence of ganglion cells in the Meissner and Auerbach plexuses. Diagnosis depends on demonstrating the absence of ganglion cells in rectal biopsy specimens. Rectal suction biopsy is widely employed as the method of choice in obtaining such specimens. Classically, the diagnosis was made until the 1990s by using the Multipurpose Suction Biopsy Kit, or Rubin Tube. This device was replaced by the Model SBT-100 Suction Biopsy Kit as the exclusive device used to procure rectal tissue. Because the suction devices are known to occasionally yield tissue that is insufficient, the present study was undertaken to determine the efficacy of using this technique to make or exclude the diagnosis of HD.
Methods:
The last 50 biopsy sessions using the Multipurpose Suction Biopsy Kit and the first 46 sessions using the Model SBT-100 were included for review.
Results:
Both groups had similar yields (24%) of biopsy sessions with insufficient tissue to allow meaningful interpretation. The predictive value of rectal suction biopsy in excluding HD at the first biopsy session was 65%.
Conclusions:
We conclude that HD can be excluded with a single rectal suction biopsy 65% of the time. A second biopsy session will exclude the diagnosis in an additional 11% of patients. Both devices yield biopsies of comparable quality and are equally useful in excluding the diagnoses of HD.
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