Congenital sucrase-isomaltase deficiency: diagnostic challenges and response to enzyme replacement therapy.

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.

Cost analysis of neonatal and pediatric parenteral nutrition in Europe: a multi-country study.

OBJECTIVES: Parenteral nutrition (PN) is critical in neonatal and pediatric care for patients unable to tolerate enteral feeding. This study assessed the total costs of compounding PN therapy for neonates, infants and children. METHODS: Face-to-face and telephone interviews were conducted in 12 hospitals across four European countries (Belgium, France, Germany and UK) to collect information on resources utilized to compound PN, including nutrients, staff time, equipment cost and supplies. A bottom-up cost model was constructed to assess total costs of PN therapy by assigning monetary values to the resource utilization using published list prices and interview data. RESULTS: A total of 49,922 PN bags per year were used to treat 4295 neonatal and pediatric patients among these hospitals. The daily total costs of one compounded PN bag for neonates in the 12 hospitals across the four countries equalled euro 55.16 (Belgium euro 53.26, France euro 46.23, Germany euro 64.05, UK L 37.43/\[euro]42.86). Overall, nutrients accounted for 25% of total costs, supplies 18%, wages 54% and equipment 3%. Average costs per bag for infants <2 year were euro 84.52 (euro 74.65 in Belgium, euro 83.84 in France, euro 92.70 in Germany and L 52.63/euro 60.26 in the UK), and for children 2-18 years euro 118.02 (euro 93.85 in Belgium, euro 121.35 in France, euro 124.54 in Germany and L 69.49/euro 79.56 in the UK), of which 63% is attributable to nutrients and 28% to wages. CONCLUSION: The data indicated that PN costs differ among countries and a major proportion was due to staff time (L 1=euro 1.144959).

Trends in paediatric home parenteral nutrition and implications for service development.

BACKGROUND & AIMS: The demand for home parenteral nutrition (HPN) services for children has risen over the past 20 years. To plan a strategy for delivery of care at regional level, we carried out a national point prevalence survey of HPN during February 2010. METHODS: Paediatric gastroenterologists in 33 hospitals known to have provided HPN services were identified from their membership of the British Society of Paediatric Gastroenterology, Hepatology and Nutrition and participation in the British Intestinal Failure Survey (BIFS). Anonymised data were collated by the BIFS administrator and results compared with a similar study performed by the British Paediatric Surveillance Unit in 1993. Trends in underlying diagnosis were explored using the BIFS database for 2006-2009. RESULTS: 139 children on HPN were reported; a fourfold increase since 1993; six of these were older than 16 years. The regional point prevalence of HPN varied from 1.76 to 41.4 per million, with a mean of 13.7 patients per million. Short bowel syndrome had increased from 27% to 63% of cases. CONCLUSIONS: The large overall increase in numbers of HPN patients suggests that a national strategy needs to be developed for the management of chronic IF.

Enteral nutrient supply for preterm infants: commentary from the European Society of Paediatric Gastroenterology, Hepatology and Nutrition Committee on Nutrition.

The number of surviving children born prematurely has increased substantially during the last 2 decades. The major goal of enteral nutrient supply to these infants is to achieve growth similar to foetal growth coupled with satisfactory functional development. The accumulation of knowledge since the previous guideline on nutrition of preterm infants from the Committee on Nutrition of the European Society of Paediatric Gastroenterology and Nutrition in 1987 has made a new guideline necessary. Thus, an ad hoc expert panel was convened by the Committee on Nutrition of the European Society of Paediatric Gastroenterology, Hepatology, and Nutrition in 2007 to make appropriate recommendations. The present guideline, of which the major recommendations are summarised here (for the full report, see http://links.lww.com/A1480), is consistent with, but not identical to, recent guidelines from the Life Sciences Research Office of the American Society for Nutritional Sciences published in 2002 and recommendations from the handbook Nutrition of the Preterm Infant. Scientific Basis and Practical Guidelines, 2nd ed, edited by Tsang et al, and published in 2005. The preferred food for premature infants is fortified human milk from the infant's own mother, or, alternatively, formula designed for premature infants. This guideline aims to provide proposed advisable ranges for nutrient intakes for stable-growing preterm infants up to a weight of approximately 1800 g, because most data are available for these infants. These recommendations are based on a considered review of available scientific reports on the subject, and on expert consensus for which the available scientific data are considered inadequate.

Clinical outcome in patients from a single region who were dependent on parenteral nutrition for 28 days or more.

BACKGROUND: The frequency and outcome of intestinal failure (IF) in children are not well defined in the UK. Long-term parenteral nutrition (PN) is an effective intervention, with intestine transplantation offering the possibility of survival should life-threatening complications arise in those with long-term dependency. The ideal model for service provision is a subject of debate. AIMS: We aimed to identify all new cases of IF (defined as PN dependency > or =28 days) in West Yorkshire over a two-year period to determine the rate of serious complications, establish the outcome after two years and clarify the role of specialist referral. METHOD: Pharmacists in all the West Yorkshire paediatric units were contacted to establish the number of children with IF during 2001-2002. Underlying diagnosis, complications and outcome at two years were obtained by case-note review for 93 of the 96 children identified. RESULTS: IF patients were exclusively managed in one or other of the three large teaching hospitals. At the two-year follow-up, six (6.4%) children had died (one while listed for a small bowel transplantation), but 85 (91%) had established full enteral feeding and were well. Two remained PN dependent and were assessed in the supra-regional intestinal transplantation unit (Birmingham); in neither case was small bowel transplantation thought to be appropriate. The most common complications were central venous catheter sepsis (69% of patients) and cholestasis (59%). CONCLUSIONS: This study shows that a favourable outcome for IF can be achieved in a regional centre with appropriate multidisciplinary support. A single UK supra-regional unit undertaking small bowel transplantation is probably adequate for assessment of the most complex patients, although this should remain under review.

Specialist feeding clinics.

Feeding difficulties are common in early life and in addition to causing considerable family stress may adversely affect growth and health. They are also a frequent feature of chronic childhood illness, particularly in neurodisability. While various different multidisciplinary approaches to assessment and management are described, none have been directed to managing the whole spectrum of feeding problems in children with and without underlying disease. Although specialist feeding clinics attempt to address a very clear need for expert help and support on the part of families and patients, few data have been published to establish the effectiveness of the interventions offered.

Nutritional support in the premature newborn.

The theory and practice of nutritional support in the premature newborn has assumed increasing importance with survival of greater numbers of very immature infants. After birth, many do not tolerate full enteral feeding until gastrointestinal motor function has matured. During this process some will develop necrotising enterocolitis (NEC), a devastating failure of adaptation to postnatal life that may result in death, or severe complications. The feeding strategy that minimises the risk of NEC remains to be defined. In addition, promoting growth rates and nutrient accretion equivalent to those achieved during fetal development while optimising neurodevelopmental and long term health outcomes represents an important challenge for neonatologists. This review will focus on the problems associated with enteral nutrition, the requirement for parenteral nutrition, and the long term consequences of early nutritional interventions, underlining the need for prolonged follow up in assessing the potential benefits of different approaches to feeding.

Enamel defects in children with coeliac disease.

AIM: This was to investigate the prevalence of enamel developmental defects in a group of children with a history of coeliac disease. METHODS: A study group of children attending the Dept. Paediatrics (Leeds General Infirmary), born between 1985 and 1986 and subsequently diagnosed and treated for coeliac disease (CD) were recruited. A group of age/sex-matched children attending the Paediatric Dentistry department were used as a control group (Cont). Examinations were carried out for enamel defects and opacities (DDE index), dmf, dmfs, DMF and DMFS (BASCD method), and a full medical and dental history were obtained. RESULTS: Significantly more children in the CD group had a greater number of enamel defects than controls for both primary (p=<0.02) and permanent (p=<0.001) dentitions. Opacities in both primary and permanent teeth were statistically significantly greater in the CD group than controls (p=<0.04 and p=<0.001 respectively). Dental caries in both primary and permanent dentitions was less in the CD group compared with the control group of children. CONCLUSION: Coeliac disease was associated with an increased prevalence of developmental enamel defects.

Awareness of swimming pool suction injury among tour operators.

A 6 year old girl suffered rectal prolapse after being sucked onto a swimming pool drain from which the cover had been removed. After six days in hospital she made a full recovery. The severe form of this injury may result in evisceration of small bowel, short bowel syndrome, and the need for long term parenteral nutrition. A survey of travel agents revealed a low awareness of this potentially devastating hazard, and a failure on the part of some companies to take adequate responsibility for customer safety. Preventive measures are reviewed.