Congenital sucrase-isomaltase (SI) deficiency is a rare genetic condition characterised by a deficiency in the brush-border SI enzyme, resulting in an inability to metabolise sucrose and starches. Six cases of congenital SI deficiency treated with Sucraid (sacrosidase, a yeast-derived enzyme that facilitates sucrose digestion) are described. Typical presenting symptoms were watery diarrhoea, abdominal pain and bloating, sometimes noticeably worse after ingestion of fruit. Diagnosis is challenging since conventional hydrogen breath testing after an oral sucrose load is impractical in young children, and many laboratories no longer look for maldigested sucrose using faecal sugar chromatography. Confirmation is by disaccharidase assay of duodenal or jejunal mucosa obtained endoscopically. All six patients showed little improvement following advice regarding dietary management, but experienced a marked reduction in symptoms with sacrosidase administration; no adverse events were reported. Sacrosidase is an effective and well-tolerated treatment for patients with congenital SI deficiency. Gene testing and clinical trial of sacrosidase may become an alternative to endoscopic biopsies for diagnosis.
Colonoscopy in children is frequently performed using intravenous sedation. Traditionally, there have been few advocates of general anaesthesia and some have regarded colonoscopy conducted in this way as potentially more hazardous. The aim of this study was to undertake a prospective audit of paediatric colonoscopy carried out under general anaesthesia. The details of all children referred for colonoscopy during a 3.5‐y period were collected prospectively and the safety and efficacy of performing colonoscopy under general anaesthesia were analysed. A total of 250 colonoscopies was performed in 215 children of median age 10.7 y (range 5 months to 16y) and ileoscopy was carried out in 164 of these cases. An increasing proportion of patients was investigated as day‐cases, including most of the 56 who had additional procedures carried out under the same anaesthetic. There were no complications from the colonoscopy (including the 18 patients who underwent polypectomy). Only one procedure‐related complication occurred and this was avoidable. These results confirm the safety of paediatric colonoscopy under general anaesthesia and demonstrate the advantages and feasibility of such an approach.
Colonoscopy in children is frequently performed using intravenous sedation. Traditionally, there have been few advocates of general anaesthesia and some have regarded colonoscopy conducted in this way as potentially more hazardous. The aim of this study was to undertake a prospective audit of paediatric colonoscopy carried out under general anaesthesia. The details of all children referred for colonoscopy during a 3.5-y period were collected prospectively and the safety and efficacy of performing colonoscopy under general anaesthesia were analysed. A total of 250 colonoscopies was performed in 215 children of median age 10.7 y (range 5 months to 16 y) and ileoscopy was carried out in 164 of these cases. An increasing proportion of patients was investigated as day-cases, including most of the 56 who had additional procedures carried out under the same anaesthetic. There were no complications from the colonoscopy (including the 18 patients who underwent polypectomy). Only one procedure-related complication occurred and this was avoidable. These results confirm the safety of paediatric colonoscopy under general anaesthesia and demonstrate the advantages and feasibility of such an approach.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.