Redo surgery in Hirschsprung disease: what did we learn? Unicentric experience on 70 patients.

PURPOSE: This article is aimed at describing a series of 70 patients who underwent a redo pull-through in the period between January 1991 and January 2007 and to compare them with a series of consecutive patients with Hirschsprung disease who underwent a single pull-through. METHODS: The notes were reviewed, and a comprehensive interview based on a disease-specific questionnaire for continence and quality of life was submitted to all eligible patients. We used a number of consecutive patients who underwent a single pull-through for Hirschsprung disease as control group. RESULTS: Seventy patients were included. Residual aganglionosis in pulled-through bowel or retained aganglionic rectum represented the indications to reoperation in most cases. Intestinal obstruction represented the leading symptom in more than 60% of patients. We adopted either the endorectal pull-through, the Duhamel, or the Swenson procedure. Thirty-six patients were assessed for long-term outcome. One third experienced complications. Long-term continence was satisfactory in 70%. Enterocolitis, soiling, and perineal excoriations were complained by 30%. Excellent to good perspectives were described by 94%, and excellent to good cosmetic results by 22%. The only significant difference with control group (109 patients) involved cosmetic appearance, whereas soiling, although more frequent, could not be considered significantly increased. CONCLUSIONS: Patients who experience failure of a pull-through must go through multiple procedures to achieve definitive results. Although overall outcome does not significantly differ from that of a single effective pull-through, great efforts should be made to minimize complications and avoid the need for a redo, which requires experienced surgeons and highly committed families for a longer course of the disease.

Hirschsprung disease and congenital anomalies of the kidney and urinary tract (CAKUT): a novel syndromic association.

Congenital anomalies of the kidney and urinary tract (CAKUT) can be associated with Hirschsprung disease (HSCR). Based on the common genetic background of enteric nervous system and kidney development, the reported association of CAKUT and HSCR seems underestimated. Therefore, we designed a prospective study aimed at determining the prevalence of CAKUT in HSCR patients and at identifying RET, glial cell line-derived neurotrophic factor (GDNF), and GDNF family receptor alpha1 (GFRalpha1) mutations or haplotypes associated with this subset of HSCR patients. Eighty-four HSCR patients consecutively admitted to our department between July 2006 and July 2007 underwent interviews, notes review, ultrasound screening (further investigation according to detected anomaly), urinalysis, and DNA extraction for molecular genetics study. Another 27 patients with isolated CAKUT were included as a control group for the molecular genetics study. Twenty-one patients (25%) with HSCR had associated CAKUT, with hydronephrosis and hypoplasia being the most frequent diagnoses. Nine of 21 CAKUT were symptomatic. Six additional patients had other non-CAKUT anomalies (for example, stones, Barter syndrome) that were excluded from association and molecular genetics analysis to avoid bias of inclusion criteria. RET mutations were found in 5 patients (4 HSCR, 1 HSCR + CAKUT, 0 CAKUT) and GDNF mutations in 3 (2 HSCR, 1 CAKUT, 0 HSCR + CAKUT). No GFRalpha1 mutations were found. Finally, the HSCR-predisposing T haplotype of RET proto-oncogene was found in 64% of HSCR, 50% of HSCR + CAKUT, and in 24% of CAKUT patients. The incidence of CAKUT in HSCR patients is 4- to 6-fold higher than expected. Therefore, a patient with HSCR has a 3- to 18-fold higher risk of developing a CAKUT, particularly hydronephrosis or hypoplasia. If we consider that the proportion of predisposing haplotype in HSCR + CAKUT patients resembles that of other syndromic HSCR, we can conclude that HSCR + CAKUT has to be considered a novel syndromic association. These results need to be confirmed in a larger series. At present, we strongly suggest considering ultrasound screening of the urinary tract in every patient with a diagnosis of HSCR.

Outcome of primary endorectal pull-through for the treatment of classic Hirschsprung disease.

INTRODUCTION: Endorectal pull-through (ERPT) is a widely accepted procedure for the treatment of Hirschsprung's disease (HSCR). This study was aimed at presenting the long-term results of patients with classic HSCR who were operated on with a laparoscopic-assisted Georgeson procedure and to compare them to patients treated with a Soave-Boley procedure. PATIENTS AND METHODS: Patients treated for Hirschsprung disease in the period 1997-2006 with a minimum follow-up of 6 months were prospectively included in this study. Demographic details, associated anomalies, surgical technique, length of aganglionosis, and postoperative complications were collected. A questionnaire was submitted to all families to assess general health, bowel adaptation, fecal and urinary continence, cosmetic results, and patients' and parents' perspective of overall outcome. RESULTS: Overall, 162 patients underwent a pull-through procedure: 25 patients treated with Georgeson and 21 with Soave-Boley ERPT were eligible for this study. Conversion was required in 3 of 28 patients approached laparoscopically. Hospitalization was shorter for patients treated laparoscopically (P < 0.05), whereas length of surgery was comparable. Complication rate was similar for both groups, as well as growth that remained within normal ranges for age. Long-term outcome, in terms of bowel movements, was similar. None of the patients experienced fecal and/or urinary incontinence. Cosmetic results proved to be excellent to good in all patients undergoing the Georgeson and in 67% of patients undergoing the Soave-Boley procedure (P < 0.05). Patients' perspective of overall outcome was excellent in more than 90% of patients from both groups. CONCLUSIONS: Overall results proved to be similar. Likewise, long-term bowel function did not show significant differences. Nonetheless, if we consider hospitalization and cosmetic results, it becomes clear that the minimally invasive approach should be preferred, when possible, to improve patients' comfort, perspective of overall health status, and psychologic acceptance.

Hirschsprung disease: do risk factors of poor surgical outcome exist?

INTRODUCTION: Long-term results after surgical treatment of Hirschsprung disease (HSCR) are not always as good as a surgeon may perceive. Several studies have tried to correlate preoperative features to the surgical outcome of HSCR, but none came to definitive conclusions. Our study is aimed at identifying risk factors of poorer long-term outcome after surgery for HSCR. MATERIALS AND METHODS: One hundred two patients with HSCR were included. Eighty had rectosigmoid aganglionosis and 22 had total colonic aganglionosis (TCSA). Preoperative variables were sex, associated anomalies, delayed meconium passage, preoperative enterocolitis, preoperative bowel obstruction, age at surgery, and number of pull-through procedures performed. Outcome measures were surgical complications, postoperative enterocolitis, perineal excoriations, constipation, continence, psychological self acceptance, and patients' perspectives. These were evaluated with regard to preoperative features and length of aganglionosis. RESULTS: Results of patients with TCSA proved to be significantly worse than those of patients with classic HSCR (constipation and poor continence excluded). Male patients with TCSA proved to have a significantly higher incidence of complications (100% vs 38.5%) and poor psychological self acceptance (100% vs 46.2%). Patients with associated anomalies (central nervous system) experienced a significantly higher incidence of postoperative constipation (43% vs 13%). Patients who described failure or delayed meconium passage complained of significantly worse continence (28.3% vs 7.1% of fair to poor continence). Preoperative enterocolitis proved to be significantly correlated to postoperative enterocolitis (16.4% vs 37.1%) and perineal excoriations (13.7% vs 30.9%). Patients with preoperative intestinal obstructions complained of significantly worse psychological self acceptance (37.8% vs 12.5%). CONCLUSIONS: Length of aganglionosis has the greatest impact on overall surgical outcome of HSCR. Other minor risk factors have been identified, namely, male sex, associated central nervous system anomalies, failure to pass meconium, and preoperative enterocolitis occurrences. Age at surgery and redo procedures proved not to significantly interfere with the outcome. Our study provides comprehensive and useful data to inform parents and families of a baby with HSCR with regard to expected results and long-term outcomes of surgery basing on preoperative features. Further studies on larger series are strongly recommended.

Hirschsprung's disease: 13 years' experience in 112 patients from a single institution.

Although Hirschsprung's disease is curable, a low mortality and a certain morbidity have been described by several authors. We will present our experience with the treatment of Hirschsprung's disease at Gaslini Children's Hospital. All patients who underwent a pull-through procedure since January 1993 were included. Data were obtained from a comprehensive questionnaire and from the revision of the notes. The results were subsequently described and compared with regard to age and length of aganglionosis. A total of 151 patients underwent a pull-through. One hundred and twelve of these patients completed the forms and were reviewed. Eighty patients had a classic form, 22 an ultralong. Complications occurred in 28 patients (25%). Postoperative enterocolitis was complained by 25 patients (13% colonic and 59% ultralong forms) and constipation by 15 (equally distributed). Excellent to good continence was experienced by 84% of patients with classic forms and by 68% of patients with ultralong forms. A clear improving trend during growth was evident for patients with ultralong forms. Psychological self-acceptance, patients' perspective and cosmetic results proved to be significantly better for patients with classic forms of the disease. Our study confirmed the complications and long-term sequelae that patients with Hirschsprung's can experience. Early diagnosis can minimise morbidity and mortality and prompt and adequate treatment can reduce the incidence of postoperative complications. The parents should be acknowledged regarding the progressive improvements of function that patients gain during growth, particularly in case of ultralong forms, thus strengthening the need for continuative care and close follow-up.

Uncommon causes of postoperative chronic diarrhoea mimicking enterocolitis in Hirschsprung's disease: is there a role for digestive endoscopy?

Severe chronic diarrhoea secondary to enterocolitis is a severe complication of Hirschsprung's disease (HSCR). Persistent outlet obstruction, immunologic issues, and mucin/mucous imbalance can cooperate in the development of this complication. Furthermore, isolated reports described severe postoperative chronic diarrhoea mimicking enterocolitis in patients with sucrase-isomaltase deficiency, inflammatory bowel disease (IBD), or intestinal microvillus atrophy. This paper is aimed in describing three patients from our HSCR series who experienced severe chronic postoperative diarrhoea secondary to such uncommon associated anomalies: sucrase-isomaltase deficiency (one patient) and IBD (two patients). With an appropriate sucrose-free diet or immunosuppressive therapy these patients improved dramatically and their diarrhoea settled. These associated anomalies can be diagnosed with digestive endoscopies (both gastro-duodenoscopy and colonoscopy). Therefore, we developed a diagnostic and therapeutic algorithm for patients with chronic diarrhoea after a pull-through, which includes digestive endoscopy to be performed in selected cases.