ReviewNature reviews. Gastroenterology & hepatology2015
Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies.
Review in Nature reviews. Gastroenterology & hepatology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06721871 (Evaluation of Safety, Tolerability and Efficacy of Crofelemer Following Multiple Ascending Doses of Crofelemer Powder for Oral Solution in Pediatric Participants With Microvillus Inclusion Disease), which is not on this map. Cited by 35 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Evaluation of Safety, Tolerability and Efficacy of Crofelemer Following Multiple Ascending Doses of Crofelemer Powder for Oral Solution in Pediatric Participants With Microvillus Inclusion Disease (MVID)
Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 91 citations in OpenAlex.
- Congenital chloride diarrhea clinical features and management: a systematic review.Pediatric research · 2021Pooled it
- A Rare Case of Neonatal-Onset Diarrhea Due to Congenital Tufting Enteropathy: Clinical, Histopathological, and Genetic Insights.Reports (MDPI) · 2026Article
- Mid‑trimester ultrasound findings in tricho‑hepato‑enteric syndrome: A case report.Biomedical reports · 2025Article
- A low-fat amino acid diet reverses intestinal failure and shows good growth trends in five infants with diacylglycerol transferase 1 (DGAT1) deficiency: a prospective cohort study.Lipids in health and disease · 2024Article
- Cellular and molecular basis of proximal small intestine disorders.Nature reviews. Gastroenterology & hepatology · 2024Review
- Congenital Diarrhoeas and Enteropathies.Nutrients · 2024Review
- Approach to Congenital Diarrhea and Enteropathies (CODEs).Indian journal of pediatrics · 2024Review
- Case report: Diagnosis and treatment of DGAT1 deficiency-induced congenital diarrhea in two cases and literature review.Frontiers in pediatrics · 2023Article
- UNC45A deficiency causes microvillus inclusion disease-like phenotype by impairing myosin VB-dependent apical trafficking.The Journal of clinical investigation · 2022Article
- Intestinal immunoregulation: lessons from human mendelian diseases.Mucosal immunology · 2021Review
- Segmental maternal uniparental disomy of chromosome 7q in a patient with congenital chloride diarrhea.Journal of clinical laboratory analysis · 2021Article
- 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
- Congenital Tufting Enteropathy: Biology, Pathogenesis and Mechanisms.Journal of clinical medicine · 2020Review
- AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect.Human genetics · 2020Article
- Application of Whole Exome Sequencing in Congenital Secretory Diarrhea Diagnosis.Journal of pediatric gastroenterology and nutrition · 2019Article
- Recent advances in understanding and managing malabsorption: focus on microvillus inclusion disease.F1000Research · 2019Review
- Two cases of microvillous inclusion disease caused by novel mutations inClinical case reports · 2018Article
- Lipid malabsorption from altered hormonal signaling changes early gut microbial responses.American journal of physiology. Gastrointestinal and liver physiology · 2018Article
- Diagnostic Yield of Next-generation Sequencing in Very Early-onset Inflammatory Bowel Diseases: A Multicentre Study.Journal of Crohn's & colitis · 2018Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Congenital diarrhoeal disorders (CDDs) represent an evolving web of rare chronic enteropathies, with a typical onset early in life. In many of these conditions, severe chronic diarrhoea represents the primary clinical manifestation, whereas in others diarrhoea is only a component of a more complex multi-organ or systemic disorder. Typically, within the first days of life, diarrhoea leads to a life-threatening condition highlighted by severe dehydration and serum electrolyte abnormalities. Thus, in the vast majority of cases appropriate therapy must be started immediately to prevent dehydration and long-term, sometimes severe, complications. The number of well-characterized disorders attributed to CDDs has gradually increased over the past several years, and many new genes have been identified and functionally related to CDDs, opening new diagnostic and therapeutic perspectives. Molecular analysis has changed the diagnostic scenario in CDDs, and led to a reduction in invasive and expensive procedures. Major advances have been made in terms of pathogenesis, enabling a better understanding not only of these rare conditions but also of more common diseases mechanisms.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.