Patient-reported Swedish nationwide outcomes of children and adolescents with total colonic aganglionosis

Stenström, Pernilla; Bräutigam, Matilda; Borg, Helena; Granéli, Christina; Lilja, Heléne Engstrand; Wester, Tomas

doi:10.1016/j.jpedsurg.2016.11.033

Cited by 29 publications

(46 citation statements)

References 27 publications

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“…Total colonic aganglionosis (TCA) has an incidence of 1 in 50-100 000, affecting 2-5 per cent of all patients with Hirschsprung's disease 1,2 . A few patients have aganglionosis that extends to the proximal small bowel or the entire small bowel [2][3][4] .…”

Section: Introductionmentioning

confidence: 99%

“…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 .…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2020

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Background: Surgery for total colonic aganglionosis (TCA) is designed to preserve continence and achieve satisfactory quality of life. This study evaluated a comprehensive group of clinical and social outcomes. Methods: An international multicentre study from eight Nordic hospitals involving examination of case records and a patient-reported questionnaire survey of all patients born with TCA between 1987 and 2006 was undertaken. Results: Of a total of 116 patients, five (4⋅3 per cent) had died and 102 were traced. Over a median follow-up of 12 (range 0⋅3-33) years, bowel continuity was established in 75 (73⋅5 per cent) at a median age of 11 (0⋅5-156) months. Mucosectomy with a short muscular cuff and straight ileoanal anastomosis (SIAA) (29 patients) or with a J pouch (JIAA) (26) were the most common reconstructions (55 of 72, 76 per cent). Major early postoperative complications requiring surgical intervention were observed in four (6 per cent) of the 72 patients. In 57 children aged over 4 years, long-term functional bowel symptoms after reconstruction included difficulties in holding back defaecation in 22 (39 per cent), more than one faecal accident per week in nine (16 per cent), increased frequency of defaecation in 51 (89 per cent), and social restrictions due to bowel symptoms in 35 (61 per cent). Enterocolitis occurred in 35 (47 per cent) of 72 patients. Supplementary enteral and/or parenteral nutrition was required by 51 (55 per cent) of 93 patients at any time during follow-up. Of 56 responders aged 2-20 years, true low BMI for age was found in 20 (36 per cent) and 13 (23 per cent) were short for age. Conclusion: Reconstruction for TCA was associated with persistent bowel symptoms, and enterocolitis remained common. Multidisciplinary follow-up, including continuity of care in adulthood, might improve care standards in patients with TCA.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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

et al. 2020

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“…1 Outcomes after its surgical treatment tend to be worse than for colonic HD due to the frequency of liquid stools, severe perineal rash, enterocolitis, difficulty with continence (even with an intact anal canal and normal sphincters), and/or growth problems. [2][3][4][5][6][7][8] Several surgical techniques have been described with the intent to minimize these negative outcomes, but none have demonstrated significant advantages in the rate of postoperative complications and quality of life. [9][10][11][12][13][14] The major difficulty in the postoperative care of these children is how to slow down the intestinal motility, thereby decreasing the number of daily bowel movements, thickening the stool, increasing nutrient absorption, preventing enterocolitis, improving continence, decreasing related skin problems, and optimizing the patient's quality of life.…”

Section: Introductionmentioning

confidence: 99%

“…In total, 19 of 25 patients were not toilet trained. The mean number of bowel movements in all groups was 4 (3)(4)(5). All had a resolution of perineal rash and liquid stools after 3 months.…”

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confidence: 95%

Total Colonic Hirschsprung's Disease: The Hypermotility and Skin Rash Protocol

et al. 2019

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Introduction Total colonic Hirschsprung's disease (TCHD) presents a postoperative challenge due to multiple stools and perineal rash. We propose a protocol developed by pediatric surgeons and ostomy nurses to help prevent and treat hypermotility and severe perineal rash, especially in younger children who are not toilet trained. Materials and Methods We retrospectively reviewed our TCHD patients' charts from 2014 to 2017. All patients received a prescribed protocol for the treatment of hypermotility and perineal rash. We describe patients who underwent their pull through before and after the age of urine toilet training, and assessed the number of bowel movements, the perineal skin status, and growth. Results We treated 25 patients. Out of 25, 9 patients received a straight ileoanal pull through before the age of 18 months. Nine of 25 patients presented for a second opinion and had redo pull through. The remaining seven presented for bowel management after having a pull through at another institution. All these were treated following the hypermotility protocol. In total, 19 of 25 patients were not toilet trained. The mean number of bowel movements in all groups was 4 (3–5). All had a resolution of perineal rash and liquid stools after 3 months. Eleven of the 25 patients presented with failure to thrive. Two older patients experienced severe proctalgia requiring replacement of the ileostomy. Conclusion TCHD patients who underwent definitive pull through had nine high incidence of multiple stool, perineal rash, and low growth. With the implementation of bowel management care to slow the stools and a perineal skin protocol to treat the skin, we believe that these symptoms can be minimized even in patients who are not toilet trained. Since the implementation of this protocol, we have changed our practice to perform the pull through in such patients between the age of 6 and 18 months.

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“…Aganglionosis or Hirschsprung's disease (HD) is a congenial intestinal dynamic disorder characterized by intestinal submucosal and myenteric plexus parasympathetic ganglion cell loss, leading to persistent diseased colonic convulsions, and contractions in addition to the obstruction of intestinal contents (1)(2)(3)(4). This disease is a colonic motor disorder with an incidence of 1:5,000 live births worldwide (5)(6)(7).…”

Section: Introductionmentioning

confidence: 99%

BMP4 knockdown of NCSCs leads to aganglionosis in the middle embryonic stage

Jin

et al. 2018

Mol Med Report

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Transplacental bone morphogenetic protein (BMP)4 RNA interference (RNAi) is a technique used to knockdown genes in embryos. BMP4 are essential for the development of nervous system in the differentiation of neural crest stem cells (NCSCs). The failure of differentiation and migration of NCSCs may lead to aganglionosis. In the present study, pregnant mice were divided into three groups: Ringer's group, pSES group and RNAi‑BMP4 group. In order to silence the BMP4 gene in the first generation (F1), 11.5 day pregnant mice were injected with the small interfering RNA BMP4 plasmid, pSES or Ringer's solution via the tail vein. Semi‑quantitative reverse transcriptase‑polymerase chain reaction (RT‑PCR)and western blotting were employed to ensure the downregulation of BMP4. Finally, X‑rays were performed following a barium enema. Aganglionosis was diagnosed by general anatomy and immunohistochemistry. Compared with the control group, transplacental RNAi was able to downregulate the BMP4‑Smad4 of 11.5 day embryos, as determined by semi‑quantitative RT‑PCR and western blotting. The megacolons of the mice were demonstrated by X‑ray and confirmed by general anatomy. Aganglionosis of colonic mucosa and submucosa were diagnosed by pathology, and immunohistochemistry. Knockdown of BMP4 in pregnant mice at the middle embryonic stage led to aganglionosis. It was therefore demonstrated that BMP‑Smad was essential to the NCSCs of middle stage embryos. BMP‑Smad served important roles in the generation of aganglionosis. This technique of knockdown BMP4 gene may be used to establish an aganglionosis mouse model.

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Patient-reported Swedish nationwide outcomes of children and adolescents with total colonic aganglionosis

Cited by 29 publications

References 27 publications

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

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

Total Colonic Hirschsprung's Disease: The Hypermotility and Skin Rash Protocol

BMP4 knockdown of NCSCs leads to aganglionosis in the middle embryonic stage

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