Surgical treatment of children with total colonic aganglionosis: functional and metabolic long-term outcome

Abstract

BackgroundTotal colonic aganglionosis (TCA) is a rare variant of Hirschsprung’s disease occurring in 3–10% of the cases. Only few studies reported the long-term clinical and metabolic outcomes of patients with TCA. The aim of this study was to evaluate the functional and metabolic long-term outcomes of children undergoing surgical treatment for TCA.MethodsA 15-year retrospective study was performed. Blood chemistry tests and stool analysis performed at the last follow-up visit were recorded. Height and weight development were assessed using the corresponding percentiles for age. Faecal continence and quality of life were evaluated using a detailed questionnaire.ResultsEleven patients were included in the study. The median age at surgery was 6 months (range: 3–72 months). After histological confirmation, all patients underwent a total colectomy. Ileoanal anastomosis (n = 6), ileorectal anastomosis (n = 1), J-pouch (n = 1) and Duhamel procedure (n = 3) were performed. Temporary ileostomy was closed after a median of 8 weeks in 10/11 patients. After a median follow-up of 78 months (range: 27–199 months), all evaluated patients were continent. Height and weight were appropriate for age in only 5 patients. Vitamin B12 and folic acid serum levels were normal in all examined patients. Ten patients had normal hemoglobin serum levels. Seven patients had low transferrin saturation in serum. Hemoccult tests were negative in all examined patients. Despite complex postoperative courses in some cases, patients and parents showed good overall satisfaction in terms of quality of life.ConclusionThe majority of patients reported a good quality of life. This can result from the adaptation of the patients to certain disease states. The failure to thrive seems to be related with the extent of aganglionosis. The inclusion of these patients in interdisciplinary long-term follow-up care, in which pediatric surgeons, gastroenterologists, and dieticians are involved, is essential.Electronic supplementary materialThe online version of this article (10.1186/s12893-018-0383-6) contains supplementary material, which is available to authorized users.

Total colonic aganglionosis: multicentre study of surgical treatment and patient-reported outcomes up to adulthood

“…Deaths were caused by associated co-morbidities or complete aganglionosis of the bowel and, in contrast to other series 4,7,13,14 , were not directly attributable to HAEC. The overall co-morbidity rate of 26⋅9 per cent was higher than that in previous reports (4-16 per cent) 1,7,16 , and could be attributed to routine screening practices for associated malformations at tertiary neonatal surgical centres. Nearly all patients with TCA (95⋅3 per cent) were diagnosed within the first year of life, and most (76⋅4 per cent) within the first 3 months.…”

“…Reports on the nutritional needs of patients with TCA are sparse 1,15,16 . The present study identified that supplementary nutrition was required commonly, even among patients with 0-20 cm of small bowel resected.…”

“…Less often 0 (0) 0 (0) 0 (0) 0 (0) 0 (0) Always/daily 1 (2) 1 (5) 0 (0) 0 (0) 0 (0) Values in parentheses are percentages unless indicated otherwise; *values are median (range). SIAA, straight ileoanal anastomosis; JIAA, J pouch-ileoanal anastomosis; BFS, bowel function score (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19)(20). †P = 0⋅007 versus SIAA and Duhamel procedure (Kruskal-Wallis test); all other comparisons were not significant.…”

“…All definitive surgical procedures in TCA aim to achieve faecal continence by preserving the sphincter musculature, even though the internal anal sphincter remains aganglionic and is a potential cause of obstructive defaecation and HAEC 13,14 . In the long-term, nutritional status and growth may be concerns, owing to loss of intestinal length, dysmotility and malabsorption 1,[15][16][17] . To date, no reconstructive surgical technique has emerged as superior to others with regard to functional outcomes or complications 3,4,18,19 .…”

Protective small intestinal stoma in surgical correction of the total form of intestinal agangliosis in children

“…Одним із дискусійних моментів при хірургічному лікуванні тотального агангліозу кишечника є використання поетапного підходу. В літературі описані одноетапні резекції товстої кишки з одночасним формуванням ілеоанального анастомозу [9,15]. Однак, після таких операцій досить часто з'являється неспроможність анастомозу та різного виду гнійно-септичні ускладнення, що в свою чергу стають причиною летальності.…”