Anaemia in Children Receiving Home Parenteral Nutrition: A Common Problem?

OBJECTIVES: Children receiving home parenteral nutrition (HPN) are at risk of iron deficiency anaemia. Our aim was to determine the incidence of iron deficiency anaemia in paediatric HPN and efficacy of each therapeutic approach. METHODS: Retrospective data collection from children receiving HPN at a tertiary referral centre over a 12-month period (2015). Full blood count, and whenever available, ferritin and C-reactive protein were collected at least 3 times for each patient. Liver function tests were checked at the beginning and end of the study and number of blood transfusions/iron infusions recorded. RESULTS: Forty-one HPN patients (61% girls; 51% motility disorder, 29% enteropathy, 20% short bowel syndrome) were identified. Eighty-three percent of children were anaemic at the beginning of the study with the number decreasing to 73% by the end. Iron deficiency anaemia was most commonly seen and treated with blood transfusion in 46% of cases and iron infusions in 29%. There was no statistical difference in the level of haemoglobin improvement between the 2 treatments (50% vs 33%, P  = 0.657) nor a significant difference in haemoglobin (g/L) level achieved. The results for both were, however, more favourable in the infusion group. Patients receiving transfusions had a significantly higher incidence of abnormal liver function compared with those who hadinfusions (93% vs 37%, P = 0.009). CONCLUSIONS: Iron deficiency anaemia is common in children receiving HPN. A large proportion of patients still receive blood transfusions as first-line therapy but intravenous iron can be a suitable alternative. Treatment guidelines are required.

Short bowel syndrome in infancy: recent advances and practical management.

Short bowel syndrome (SBS) is a rare condition characterised by extensive loss of intestinal mass secondary to congenital or acquired disease. The outcomes are determined by dependency on parenteral nutrition (PN), its possible complications and factors that influence intestinal adaptation. In order to achieve the best results, patients should be managed by a specialised multidisciplinary team with the aims of promoting growth and development, stimulating intestinal adaptation and preventing possible complications. This involves timely surgical management aimed at rescuing maximum bowel length and eventually re-establishing intestinal continuity where appropriate. A combination of enteral and parenteral nutrition needs to be targeted towards maintaining a balance between fulfilling the nutritional and metabolic needs of the child while preventing or at least minimising potential complications. Enteral nutrition and establishment of oral feeding play a fundamental role in stimulating bowel adaptation and promoting enteral autonomy. Other measures to promote enteral autonomy include the chyme recycling in patients where bowel is not in continuity, autologous gastrointestinal reconstruction and pharmacological treatments, including promising new therapies like teduglutide. Strategies such as lipid reduction, changing the type of lipid emulsion and cycling PN are associated with a reduction in the rates of intestinal failure-associated liver disease. Even though vast improvements have been made in the surgical and medical management of SBS, there is still lack of consensus in many aspects and collaboration is essential.

Paediatric parenteral nutrition: current issues.

Parenteral nutrition transformed the prognosis for infants and children with intestinal failure. Soon after its introduction into clinical care 50 years ago, parenteral nutrition was also rapidly adopted for use in the preterm infant, where immaturity of gastrointestinal motor function precluded enteral feeding. Preterm infants subsequently became the single largest group of patients to be fed in this way. Although the development of scientific knowledge and the lessons of clinical experience have reduced the risk of complications, some of the problems and difficulties associated with this form of nutritional support remain challenging. These include central venous catheter-related sepsis, thrombosis, liver disease, bone disease and metabolic disturbance. In an initiative to promote best practice, guidelines on parenteral nutrition were first published by the European Society for Paediatric Gastroenterology, Hepatology and Nutrition and collaborating organisations in 2005. These were constructed following a thorough review of the scientific literature, allowing a series of evidence-based recommendations to be made. The exercise was repeated just over 10 years later and updated guidelines published in 2018. This review summarises key elements from the new guideline, with a focus on what has changed since 2005.

Phenotypic and Genotypic Characterisation of Inflammatory Bowel Disease Presenting Before the Age of 2 years.

OBJECTIVES: Inflammatory bowel disease [IBD] presenting in early childhood is extremely rare. More recently, progress has been made to identify children with monogenic forms of IBD predominantly presenting very early in life. In this study, we describe the heterogeneous phenotypes and genotypes of patients with IBD presenting before the age of 2 years and establish phenotypic features associated with underlying monogenicity. METHODS: Phenotype data of 62 children with disease onset before the age of 2 years presenting over the past 20 years were reviewed. Children without previously established genetic diagnosis were prospectively recruited for next-generation sequencing. RESULTS: In all, 62 patients [55% male] were identified. The median disease onset was 3 months of age (interquartile range [IQR]: 1 to 11). Conventional IBD classification only applied to 15 patients with Crohn's disease [CD]-like [24%] and three with ulcerative colitis [UC]-like [5%] phenotype; 44 patients [71%] were diagnosed with otherwise unclassifiable IBD. Patients frequently required parenteral nutrition [40%], extensive immunosuppression [31%], haematopoietic stem-cell transplantation [29%], and abdominal surgery [19%]. In 31% of patients, underlying monogenic diseases were established [EPCAM, IL10, IL10RA, IL10RB, FOXP3, LRBA, SKIV2L, TTC37, TTC7A]. Phenotypic features significantly more prevalent in monogenic IBD were: consanguinity, disease onset before the 6th month of life, stunting, extensive intestinal disease and histological evidence of epithelial abnormalities. CONCLUSIONS: IBD in children with disease onset before the age of 2 years is frequently unclassifiable into Crohn's disease and ulcerative colitis, particularly treatment resistant, and can be indistinguishable from monogenic diseases with IBD-like phenotype.