Renal Function in Children on Long Term Home Parenteral Nutrition

Objectives: To assess renal function in pediatric intestinal failure (IF) patients on long term home parenteral nutrition (HPN).Methods: Children who received HPN for a minimum of 3 years between 2007 and 2017 were identified from the IF clinic of a large tertiary referral center. Estimated glomerular filtration rate (eGFR) was calculated using the Schwartz formula at discharge on HPN, after 6 months, 1, 2, and 3 years.Results: Twenty five patients (40% male) fulfilled the inclusion criteria. The indications for HPN were due to an underlying motility disorder in 56% (14/25), enteropathy in 24% (6/25), and short bowel syndrome in 20% (5/25). At the start of HPN 80% (20/25) had a normal eGFR. Four children (17%) had an abnormal eGFR. In the group of patients with normal eGFR at the start of HPN 30% (6/20) had at least one episode of decreased eGFR in the following 3 years, however there was no significant decline in eGFR at the end of the 3 year study period. Overall there was no statistically significant deterioration of eGFR in the study population (p = 0.7898).Conclusion: In our cohort of children on long term HPN no significant decline of eGFR could be demonstrated within 3 years of starting PN

Inflammatory Bowel Disease in Patients with Congenital Chloride Diarrhoea

Publisher Copyright: © 2021 The Author(s) 2021. Published by Oxford University Press on behalf of European Crohn's and Colitis Organisation. All rights reserved. For permissions, please email: [email protected]: Congenital chloride diarrhoea [CLD] is a rare autosomal recessive disease caused by mutations in the solute family carrier 26 member 3 [SLC26A3] gene. Patients suffer from life-long watery diarrhoea and chloride loss. Inflammatory bowel disease [IBD] has been reported in individual patients with CLD and in scl26a3-deficient mice. Methods: We performed an international multicentre analysis to build a CLD cohort and to identify cases with IBD. We assessed clinical and genetic characteristics of subjects and studied the cumulative incidence of CLD-associated IBD. Results: In a cohort of 72 patients with CLD caused by 17 different SLC26A3 mutations, we identified 12 patients [17%] diagnosed with IBD. Nine patients had Crohn's disease, two ulcerative colitis and one IBD-unclassified [IBD-U]. The prevalence of IBD in our cohort of CLD was higher than the highest prevalence of IBD in Europe [p < 0.0001]. The age of onset was variable [13.5 years, interquartile range: 8.5-23.5 years]. Patients with CLD and IBD had lower z-score for height than those without IBD. Four of 12 patients had required surgery [ileostomy formation n = 2, ileocaecal resection due to ileocaecal valve stenosis n = 1 and colectomy due to stage II transverse colon cancer n = 1]. At last follow-up, 5/12 were on biologics [adalimumab, infliximab or vedolizumab], 5/12 on immunosuppressants [azathioprine or mercaptopurine], one on 5-ASA and one off-treatment. Conclusions: A substantial proportion of patients with CLD develop IBD. This suggests the potential involvement of SL26A3-mediated anion transport in IBD pathogenesis. Patients with CLD-associated IBD may require surgery for treatment failure or colon cancer.Peer reviewe

Nutritional Management of Intestinal Failure due to Short Bowel Syndrome in Children

Background: The most common cause of intestinal failure (IF) in childhood remains short bowel syndrome (SBS), where bowel mass is significantly reduced due to a congenital atresia or resection and parenteral nutrition (PN) needed. Home PN has improved outcome and quality of life, but the long-term therapeutic goal is to achieve enteral autonomy whilst avoiding long term complications. This paper is aimed at discussing nutritional strategies available to clinicians caring for these patients. Methods: A literature search was performed from 1992 to 2022 using Pubmed, MEDLINE and Cochrane Database of Systematic Reviews, and recent guidelines were reviewed. In the absence of evidence, recommendations reflect the authors’ expert opinion. Results: Consensus on the best possible way of feeding children with IF-SBS is lacking and practice varies widely between centres. Feeding should commence as soon as possible following surgery. Oral feeding is the preferred route and breast milk (BM) the first milk of choice in infants. Donor BM, standard preterm or term formula are alternatives in the absence of maternal BM. Extensively hydrolysed or amino acid-based feeds are used when these are not tolerated. Solids should be introduced as soon as clinically appropriate. Children are encouraged to eat by mouth and experience different tastes and textures to avoid oral aversion. Aggressive weaning of PN and tube (over-) feeding are now discouraged. Conclusions: To date, uniform agreement on the optimal type of feed, timing of food introduction and feeding regime used is lacking and great difference in practice remains. There is need for more research to establish common treatment protocols

Nutritional Management of the Critically ill Neonate

The nutritional management of critically ill term neonates and preterm infants varies widely, and controversies exist in regard to when to initiate nutrition, mode of feeding, energy requirements, and composition of enteral and parenteral feeds. Recommendations for nutritional support in critical illness are needed

Immunomodulatory effects of amino acid-based formulae (AAF) in gastrointestinal non-IgE mediated food allergy

RATIONALE: Management of non-IgE mediated food allergies in early childhood involves allergen avoidance by using extensively hydrolysed (eHF) or amino acid-based formulas (AAF). Clinical anecdote suggests that AAF relieve symptoms more effectively in some patients than using eHF or simple allergen avoidance. This study aimed to explore whether AAF has additional immunomodulatory properties. METHODS: Forty-eight pediatric patients

The Use of Blended Diets in Children With Enteral Feeding Tubes: A Joint Position Paper of the ESPGHAN Committees of Allied Health Professionals and Nutrition

OBJECTIVES: This joint position paper of the Committees of Allied Health Professionals (CAHP) and Nutrition (CON) of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) provides a comprehensive guide for health professionals to manage blended diets in children via gastrostomy tubes. METHODS: A systematic literature search was performed from 1992 to 2021 using Pubmed, MEDLINE, and Cochrane Database of Systematic Reviews and recent guidelines reviewed. In the absence of evidence, recommendations reflect the authors' expert opinion. Final consensus was obtained by multiple e-mail exchange and virtual meetings of the CAHP and CON. RESULTS: Reported benefits of blended diets include reduced GERD and infections, improved defecation, level of alertness and attention span, skin conditions, and appearance of hair and nails. Families report a sense of greater normality. Small case series, cross-sectional surveys, questionnaire-based small case studies, reports of personal experience, and single-center pilot studies are available in the medical literature. A total of 20 recommendations for practice were made based on the results and consensus process. CONCLUSIONS: There is little evidence published to formally inform about the potential health benefits or risks of this practice and how to use it in the best way. This leaves health professionals caring for such patients in a relative vacuum regarding what to consider when providing a duty of care to patients and carers who wish to pursue this method of feeding. This article provides guidelines for safe and appropriate use of a BD, but more research is needed

Convergent somatic evolution commences in utero in a germline ribosomopathy.

Clonal tracking of cells using somatic mutations permits exploration of clonal dynamics in human disease. Here, we perform whole genome sequencing of 323 haematopoietic colonies from 10 individuals with the inherited ribosomopathy Shwachman-Diamond syndrome to reconstruct haematopoietic phylogenies. In ~30% of colonies, we identify mutually exclusive mutations in TP53, EIF6, RPL5, RPL22, PRPF8, plus chromosome 7 and 15 aberrations that increase SBDS and EFL1 gene dosage, respectively. Target gene mutations commence in utero, resulting in a profusion of clonal expansions, with only a few haematopoietic stem cell lineages (mean 8, range 1-24) contributing ~50% of haematopoietic colonies across 8 individuals (range 4-100% clonality) by young adulthood. Rapid clonal expansion during disease transformation is associated with biallelic TP53 mutations and increased mutation burden. Our study highlights how convergent somatic mutation of the p53-dependent nucleolar surveillance pathway offsets the deleterious effects of germline ribosomopathy but increases opportunity for TP53-mutated cancer evolution