Rectal Suction Biopsies Less Accurate in Infants <40 days

Briefly noted:

RJ Meinds et al Clin Gastroenterol Hepatol 2015; 13: 1801-07. In this retrospective analysis (1975-2011) of 529 rectal suction biopsies (RSBs) from 441 patients, the authors note lower sensitivity for RSB in infants <40 days.

From Table 3:

  • Hirschsprung’s disease patients <40 days: true-positive RSB 56/111 (50%), inconclusive RSB 32/111 (29%) and false negative 23/111 (21%)
  • Hirschsprung’s disease patients >40 days: true-positive RSB 136/154 (88%), inconclusive RSB 14/154 (9%) and false negative 4/154 (3%)
  • Non-HD patients <40 days: inconclusive RSB 2/48 (4%), false-positive RSB 0/48 (0%)
  • Non-HD patients >40 days: inconclusive RSB 10/216 (5%), false-positive RSB 1/216 (<1%)

Bottomline: This study may need to be replicated due to improvements in biopsy analysis (eg. calretinin); however, in the first 40 days of life, RSBs are more often inconclusive and/or false-negatives.  The use of anorectal manometry may be helpful.

Related blog posts:

Coors Field

Reducing Diagnostic Uncertainty in Hirschsprung’s Disease

Previously this blog noted the emergence of calretinin immunohistochemisty (What is calretinin? | gutsandgrowth).  Now, more data has been published indicating that calretinin reduces inconclusive rectal biopsies for the diagnosis of Hirschsprung’s disease (JPGN 2014; 58: 603-07).

The authors analyzed data retrospectively for 45 patients prior to the use of calretinin and 42 patients after calretinin introduction.

Key finding: 37.8% (17 of 45) of patients had inconclusive rectal biopsies prior to use of calretinin compared with 11.9% (5 of 42) after including calretinin immunohistochemistry.

What is calretinin?

Calretinin is a ‘calcium-binding protein that is normally expressed in cholinergic nerves.’ (NEJM 2012:366: 361-72)  The absence of calretinin-positive mucosal neurites helps establish a diagnosis of Hirschsprung’s disease, even when suction-biopsy specimens may have previously been considered inadequate.  It is not known why calretinin neurites are absent in Hirschsprung’s disease nor why abnormal acetylcholinesterase-positive neurites are present.

More information on the technical aspects of diagnosing Hirschsprung’s disease and illustrations of these stains is available in this case record.

Additional references:

  • -Mod Pathol 2009; 22: 1379-84. Calretinin in Hirschsprung’s.
  • -Pediatr Dev Pathol 2009; 12: 6-15. Calretinin & acetylcholinesterase in Hirschsprung’s.
  • -JPGN 2011; 53: 75.  Problems post-op.
  • -JPGN 2008; 46:13.  Nice review.
  • -Pediatrics 2002; 109: 914-918.  Review of surgical treatments.
  • http://www.ccdhc.org/diseases/Hirschsprung.html