ArticleOrphanet journal of rare diseases2013
Genotype-dependency of butyrate efficacy in children with congenital chloride diarrhea.
Article in Orphanet journal of rare diseases, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Congenital chloride diarrhea clinical features and management: a systematic review.Pediatric research · 2021Pooled it
- Refeeding Syndrome May Increase the Risk of Anemia of Prematurity: Is Early Enteral Nutrition the Solution?Nutrients · 2026Observational
- Administration of Sodium Bicarbonate in Critically Ill Newborns: A Systematic Review and Meta-Analysis.Journal of personalized medicine · 2026Review
- Short-chain fatty acids: linking diet, the microbiome and immunity.Nature reviews. Immunology · 2024Review
- Approach to Congenital Diarrhea and Enteropathies (CODEs).Indian journal of pediatrics · 2024Review
- Deficient butyrate metabolism in the intestinal microbiome is a potential risk factor for recurrent kidney stone disease.Urolithiasis · 2024Article
- Microbiota-derived short chain fatty acids in pediatric health and diseases: from gut development to neuroprotection.Frontiers in microbiology · 2024Review
- Early Energy Intake and Amino Acid Profile in Preterm Newborns: A Quasi-Experimental Study.Nutrients · 2023Article
- Prenatal diagnosis of congenital chloride diarrhea by whole exome sequencing in four Chinese families and prenatal genotype-phenotype association study.World journal of pediatrics : WJP · 2023Article
- NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders.Diagnostics (Basel, Switzerland) · 2021Article
- Step-Up Approach for Sodium Butyrate Treatment in Children With Congenital Chloride Diarrhea.Frontiers in pediatrics · 2021Article
- Pharmacological and Parenteral Nutrition-Based Interventions in Microvillus Inclusion Disease.Journal of clinical medicine · 2020Review
- Impaired Ratio of Unsaturated to Saturated Non-Esterified Fatty Acids in Saliva from Patients with Cystic Fibrosis.Diagnostics (Basel, Switzerland) · 2020Article
- Perturbations of the Gut Microbiome and Metabolome in Children with Calcium Oxalate Kidney Stone Disease.Journal of the American Society of Nephrology : JASN · 2020Article
- Congenital chloride losing diarrhea: A single center experience in a highly consanguineous population.Medicine · 2019Article
- Two cases of microvillous inclusion disease caused by novel mutations inClinical case reports · 2018Article
- An "ex vivo model" contributing to the diagnosis and evaluation of new drugs in cystic fibrosis.Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale · 2017Article
- Vitamin A deficiency impacts the structural segregation of gut microbiota in children with persistent diarrhea.Journal of clinical biochemistry and nutrition · 2016Article
- Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies.Nature reviews. Gastroenterology & hepatology · 2015Review
- Rare mutation in the SLC26A3 transporter causes life-long diarrhoea with metabolic alkalosis.BMJ case reports · 2015Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundCongenital chloride diarrhea (CLD) is an autosomal recessive disorder characterized by life-long, severe diarrhea with intestinal Cl- malabsorption. It results from a reduced activity of the down regulated in adenoma exchanger (DRA), due to mutations in the solute carrier family 26, member 3 (SLC26A3) gene. Currently available therapies are not able to limit the severity of diarrhea in CLD. Conflicting results have been reported on the therapeutic efficacy of oral butyrate.
methodsWe investigated the effect of oral butyrate (100 mg/kg/day) in seven CLD children with different SLC26A3 genotypes. Nasal epithelial cells were obtained to assess the effect of butyrate on the expression of the two main Cl- transporters: DRA and putative anion transporter-1 (PAT-1).
resultsA variable clinical response to butyrate was observed regarding the stool pattern and fecal ion loss. The best response was observed in subjects with missense and deletion mutations. Variable response to butyrate was also observed on SLC26A3 (DRA) and SLC26A6 (PAT1) gene expression in nasal epithelial cells of CLD patients.
conclusionsWe demonstrate a genotype-dependency for butyrate therapeutic efficacy in CLD. The effect of butyrate is related in part on a different modulation of the expression of the two main apical membrane Cl- exchangers of epithelial cells, members of the SLC26 anion family.
trial registrationAustralian New Zealand Clinical trial Registry ACTRN12613000450718.
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