Hirschsprung's disease: long-term outcomes and pathophysiology of bowel dysfunction

Malla Salli

Tutkimustuotos: OpinnäyteVäitöskirjaArtikkelikokoelma


Background. Patients with Hirschsprung’s disease (HD) have significant post-operative morbidity due to Hirschsprung-associated enterocolitis (HAEC) and other bowel function disturbances, but their exact etiology is still unknown. Transanal endorectal pull-through (TEPT) has suggested to cause some of these problems, but controlled long-term studies are lacking. The relation of bowel dysfunctions and quality of life (QoL) is also unclear. Moreover, despite that gut microbial dysbiosis has been associated with the development of HAEC, its impact on other postoperative bowel symptoms is unclear. Aim. To systematically define bowel, urinary and sexual functional outcomes and QoL after TEPT in HD patients up to adulthood in relation to healthy controls. To characterize the microbiota profiles of HD patients in relation to healthy controls, HAEC and other bowel dysfunctions. Methods. A single-institution, cross-sectional, retrospective study including all HD patients with a TEPT performed between 1987–2011. Two case-control surveys regarding bowel, urinary and sexual functions and QoL. Voluntary patients participated also in a clinical follow-up with clinical urological investigations. Regarding surveys, patients aged ≥4 without an enterostomy/ACE were included in the bowel function analysis, and patients aged ≥4 and ≥16 without an associated syndrome were included in urinary and sexual functional analysis, respectively. The gut microbiota was analyzed from stool samples of patients and compared to the microbiota of healthy controls. The ethics committee of the Helsinki University Hospital approved the research protocol. Results. Overall survival was 98% (n=143/146; median age 15 (3–33); 83% rectosigmoid aganglionosis; 29% had an associated syndrome). At the last follow-up, 42% and 12% had occasional and frequent fecal soiling, and 8% and 1% had occasional or frequent constipation, respectively, which were predicted by an associated syndrome (p
Myöntävä instituutio
  • Helsingin yliopisto
  • Pakarinen, Mikko Petteri, Valvoja
  • Rintala, Risto, Valvoja
Myöntöpäivämäärä14 joulukuuta 2018
Painoksen ISBN978-951-51-4638-0
Sähköinen ISBN978-951-51-4639-7
TilaJulkaistu - 2018
OKM-julkaisutyyppiG5 Tohtorinväitöskirja (artikkeli)


M1 - 95 s. + liitteet


  • 3123 Naisten- ja lastentaudit
  • 3126 Kirurgia, anestesiologia, tehohoito, radiologia

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