Total colonic aganglionosis in Hirschsprung disease

Long‐term outcome and quality of life in patients with total colonic aganglionosis in the Netherlands

“…In our population, 65% of the patients reported constipation, 47% reported faecal incontinence and 53% reported soiling. This is comparable with, or somewhat higher than, reports in other studies .The use of bowel management was reported by 18% of our patients and an adapted diet by 29%. Functional problems were reported more often in questionnaires than in medical records.…”

“…Functional problems were present in all age groups, as also suggested by others [12,13,31,33,37,42], whereas some studies suggest a decrease of functional problems over time [16,18]. As a result of male dominance in patients with TCA (4:1), also described by other studies [2], comparison could not be made between male and female patients. In addition, literature suggests other problems in patients with TCA.…”

Hirschsprung disease in the premature newborn: A population based study and 40-year single center experience

“…Although we are unable to calculate the true sensitivity and specificity of the contrast enema in this study, findings consistent with a rectosigmoid transition zone Hirschsprung disease were seen on contrast enema in 60% of our patients. Total colon aganglionosis occurred with a similar frequency (14.8%) in our premature patients as that reported for term infants with HD [15].…”

A common polymorphism in pre-miR-146a underlies Hirschsprung disease risk in Han Chinese

“…However, in terms of pathological mechanism of HSCR, it is still unclear except that during the period of 5th to 12th weeks of embryonic development, enteric nervous crest cells stop migrating to the normal location and lead to the occurrence of congenital megacolon (Moore, 2012;Takahashi et al, 2013). Although a ghastly heap of studies have verified that the mutations in RET (RET protooncogene) are mainly responsible for HSCR with gradual appearance of other susceptibility genes, such as NRG1, ECE1, EDN3, EDNRB, GDNF, SOX10 and ZFHX1B (Heanue and Pachnis, 2007), underlying molecular and genetic mechanisms for HSCR remained unclear.…”