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Impact of Age on Submucosal Nerve Measurements in Rectal Biopsies from Patients with Hirschsprung Disease

Beach, Sarah C.
http://rave.ohiolink.edu/etdc/view?acc_num=osu1586548909282138

Abstract Details

2020, Master of Science, Ohio State University, Anatomy.
Hypertrophic submucosal nerves, defined as ≥ 40 microns in diameter, are considered supportive of a diagnosis of Hirschsprung disease (HSCR), but the effect of age on nerve diameter has not been well-studied. We sought to characterize the distribution of nerve diameter in ganglionated rectal biopsies and the significance of hypertrophic submucosal nerves in the diagnosis of Hirschsprung disease based on age. Rectal biopsies were performed at Nationwide Children’s Hospital, Columbus, Ohio, for the evaluation of Hirschsprung disease. The biopsies from 2017-2018 were retrospectively collected and reviewed. Hirschsprung disease status was determined by the presence or absence of ganglion cells. The diameter of the largest submucosal nerve was measured and compared between age groups. Within the two-year period, 179 rectal biopsies with adequate submucosa were identified. Ganglion cells were present in 151 biopsies, and 28 aganglionic biopsies were diagnosed as Hirschsprung disease. Submucosal nerve diameter range was 17.5-101.5 microns in non-Hirschsprung disease biopsies (non-HSCR) and 14-98 microns in HSCR biopsies. Across all ages, hypertrophic submucosal nerves were significantly associated with Hirschsprung disease [HSCR = 25/28 (83%) vs non-HSCR = 59/151 (39.1%), p=<0.0001] and showed a sensitivity of 89.29% and specificity of 60.93%. Stratified by age, the submucosal nerve diameter remained statistically significant for HSCR in patients <1 year of age [HSCR = 22/24 (91.7%) vs. non-HSCR 19/91 (20.9%), p=<0.0001] with sensitivity of 91.67% and specificity of 79.12%. Hypertrophic submucosal nerves were not statistically significant in patients ≥ 1 year of age [HSCR = 3/4 (75%) vs. non-HSCR = 40/60 (66.7%), p=1] and showed reduced sensitivity (75%) and specificity (33.33%) for the diagnosis for HSCR. Based on a receiver operating characteristic curve, a nerve diameter of 45 microns demonstrates the greatest sensitivity (88%) and specificity (83%) for HSCR. The average submucosal nerve diameter in non-HSCR rectal biopsies increases with age. Hypertrophic submucosal nerves are significantly associated with HSCR in patients <1 year of age but may have limited utility for the diagnosis of HSCR in patients >1 year of age. However, our data includes very few patients with HSCR that are >1 year, and additional studies are needed to evaluate biopsies from older children.
Melissa Quinn, PhD (Advisor)
Miriam Conces, MD (Committee Member)
Christopher Pierson, MD, PhD (Committee Member)
James Cray, PhD (Committee Member)
52 p.
Anatomy and Physiology
Hirschsprung; pathology; neural crest; congenital aganglionic megacolon; Hirschsprung disease

Recommended Citations

Citations

  • Beach, S. C. (2020). Impact of Age on Submucosal Nerve Measurements in Rectal Biopsies from Patients with Hirschsprung Disease [Master's thesis, Ohio State University]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=osu1586548909282138

    APA Style (7th edition)

  • Beach, Sarah. Impact of Age on Submucosal Nerve Measurements in Rectal Biopsies from Patients with Hirschsprung Disease. 2020. Ohio State University, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=osu1586548909282138.

    MLA Style (8th edition)

  • Beach, Sarah. "Impact of Age on Submucosal Nerve Measurements in Rectal Biopsies from Patients with Hirschsprung Disease." Master's thesis, Ohio State University, 2020. http://rave.ohiolink.edu/etdc/view?acc_num=osu1586548909282138

    Chicago Manual of Style (17th edition)

osu1586548909282138
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