[Recommendations for the Protocol of functional examination of the anorectal zone and disorders classification: the International Anorectal Physiology Working Group consensus and Russian real-world practice].

This manuscript summarizes consensus reached by the International Anorectal Physiology Working Group (IAPWG) for the performance, terminology used, and interpretation of anorectal function testing including anorectal manometry (focused on high-resolution manometry), the rectal sensory test, and the balloon expulsion test. Based on these measurements, a classification system for disorders of anorectal function is proposed. Aim to provide information about methods of diagnosis and new classification of functional anorectal disorders to a wide range of specialists general practitioners, therapists, gastroenterologists, coloproctologists all who face the manifestations of these diseases in everyday practice and determine the diagnostic and therapeutic algorithm. Current paper provides agreed statements of IAPWG Consensus and comments (in italics) of Russian experts on real-world practice, mainly on methodology of examination. These comments in no way intended to detract from the provisions agreed by the international group of experts. We hope that these comments will help to improve the quality of examination based on the systematization of local experience with the use of the methods discussed and the results obtained. Key recommendations: the International Anorectal Physiology Working Group protocol for the performance of anorectal function testing recommends a standardized sequence of maneuvers to test rectoanal reflexes, anal tone and contractility, rectoanal coordination, and rectal sensation. Major findings not seen in healthy controls defined by the classification are as follows: rectoanal areflexia, anal hypotension and hypocontractility, rectal hyposensitivity, and hypersensitivity. Minor and inconclusive findings that can be present in health and require additional information prior to diagnosis include anal hypertension and dyssynergia.

Clinical features' diagnostics and treatment of Hirschsprung's disease in adults.

AIM: Hirschsprung's disease first diagnosed in adulthood is symptomatic from early childhood in most cases. However, the condition is frequently masked when constipation is managed effectively by enemas and aperients. One third of the patients will experience progressive symptoms or complications, requiring urgent surgical intervention. METHOD: Ninety patients with adult Hirschsprung's disease were observed by a combination of investigations: barium enema, anorectal physiology, estimation of acetylcholinesterase activity and a 60mm full-thickness strip biopsy. The latter two modalities were performed in selected patients where there was diagnostic uncertainty. Single-staged resections, mostly modified Duhamel procedures, were performed in patients who were stable and fit, and with only a limited degree of megacolon present, and no other complications. Otherwise patients were temporarily defunctioned prior to staged resection. All patients underwent surgical treatment. Long-term functional outcomes were expressed as good, satisfactory or poor. RESULTS: Median age was 24.5 years, range 14-47 years, and 72.2% were men. Almost three quarters (73.3%) of the patients had symptoms dating from early childhood. Barium enema was diagnostic in 84.3%, and 36.2% had a positive, but weak rectoanal inhibitory reflex. Acetylcholinesterase staining was positive in 85.7%, but full-thickness strip biopsy was positive in 100% of equivocal cases. A separate cadaveric study of unaffected individuals determined the true length of the normal physiological hypoganglionic zone, mean 24.4 mm and range 7.5-50 mm. Supra-anal short segment Hirschprung's disease was found in 5.6% patients, rectal involvement in 54.4%, rectosigmoid in 38.9% and total aganglionosis of the colon in 1.1%. Resection of the aganglionic zone and proximally dilated colon was performed as a single-staged procedure in 67.8%. Staged surgery was carried out in 32.2%. A modified Duhamel procedure was performed in 91.2% of cases. A good or satisfactory functional outcome was achieved in 96.7%. Long-term functional outcome after resection depends on the degree of preoperative megacolon present. Megacolon limited to the sigmoid colon was associated with a good outcome in 89.7%, but in only 66.7% with more proximal dilatation (P < 0.05). CONCLUSION: Occasionally, Hirschsprung's disease presents in adulthood, with ongoing symptoms from early childhood or with the development of functional obstruction, faecal impaction and megacolon in later life. Diagnosis often requires multimodal investigation. A 60 mm full-thickness strip biopsy confirms aganglionosis in 100%. A modified Duhamel procedure is the operation of choice.

Hirschsprung's disease in adults.

Hirschsprung's disease is the malformation of the hindgut characterised by the absence of intramural ganglion cells in the submucosal and myenteric plexuses and manifested by megacolon. Congenital character of this disease stipulates its belonging in general to the scope of activity of the pediatric clinics. Thanks to the progress of the pediatricians problems of diagnosis and treatment of Hirschsprung's disease have been successfully resolved.