Clinical practice guidelines for allied disorders of Hirschsprung's disease

Hirschsprung's disease is caused by dysperistalsis and a lack of recto-anal reflex due to aganglionosis of the distal portion of the intestinal tract. This disease is characterized by delayed meconium excretion, abdominal distention, vomiting, and intestinal dilatation. It was noted that some patients had symptoms similar to those of Hirschsprung's disease, despite the presence of ganglia cells in the rectum, and the first report describing such cases was published in 1958; this condition was regarded as “pseudo-Hirschsprung's disease”.1 Subsequently, various terms have been used to describe this group of diseases, including pseudo-Hirschsprung's disease, Hirschsprung's disease-related disorders, variant Hirschsprung's disease, allied disorders of Hirschsprung's disease, and Hirschsprung's disease-related neuromuscular disorders of the intestine.2-5 The disease concepts and individual diseases included in “allied disorders of Hirschsprung's disease” have gradually changed over the years and a consensus has not been established. Inevitably, there are currently no clinical practice guidelines for the management of the diseases. In this issue of the Journal, Muto et al. have defined this group of diseases as “allied disorders of Hirschsprung's disease”; outlined the newly established Japanese clinical practice guidelines for diagnosis; and provided appropriate treatment strategies for each disease.6 The guidelines were developed using the methodologies in the Medical Information Network Distribution System (MINDS) and a unique systematic review approach in order to evaluate the small number of cases. The aim of the MINDS project is to help medical practitioners to fully utilize the information related to evidence-based medicine in their practice. MINDS also provides patients and the public with information to help understand the basics of disease and to share with their practitioners the up-to-date evidence on which modern medical practice is based. The procedure for the construction of Japanese clinical practice guidelines (CPG) in MINDS is as follows: (i) data search/screening; (ii) evaluation using Appraisal of Guidelines for Research and Evaluation II (AGREE II);7 (iii) selection by the CPG evaluation committee; and (iv) publication on the MINDS website.8 In the guidelines, the following seven diseases are defined as allied disorders of Hirschsprung's disease: (i) immaturity of ganglia; (ii) isolated hypoganglionosis; (iii) intestinal neuronal dysplasia; (iv) megacystis microcolon intestinal hypoperistalsis syndrome; (v) segmental dilatation of the intestine; (vi) internal anal sphincter achalasia; and (vii) chronic idiopathic intestinal pseudo-obstruction. The guidelines describe the diagnosis, medication, nutritional support, surgical therapy, and prognosis for each disease, and emphasize the importance of histopathological evaluation of enteric ganglia using full-thickness intestinal biopsy specimens. The author declares no conflict of interest.