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.

No abstract

No abstract

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.

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.

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.

No abstract

El manejo del paciente pediátrico que está afectado por una enfermedad sistémica requiere de una capacitación por parte del odontopediatra. La patología debe ser conocida así como su manejo médico, hallazgos bucales y manejo odontológico, con la finalidad de hacer un correcto abordaje y evitar posibles complicaciones. Objetivo: Recopilar la opinión de diferentes autores en cuanto al manejo odontológico de algunas enfermedades sistémicas. Materiales y método: Revisión bibliográfica realizada por medio de consulta electrónica mediante las bases de datos: Pubmed, Ebsco-search, LILACS, Proquest y Biblioteca Cochrane Plus. Se presentan los resultados encontrados en la revisión sobre el manejo odontológico en las cardiopatías congénitas y adquiridas, alteraciones hormonales e inmunológicas, y diabetes. Conclusión: Después de esta revisión bibliográfica se puede concluir que la mayoría de los estudios del manejo de la salud dental en pacientes con compromisos médicos son pobres, aun cuando la necesidad es imperativa. Esta población está aún lejos de comprender plenamente la importancia de la salud bucal a menudo por falta de conocimientos.