Evidence map›Paper›PMID 22605972›Full record

ReviewInternational journal of molecular sciences2012

Congenital diarrheal disorders: an updated diagnostic approach.

Gianluca Terrin, Rossella Tomaiuolo, Annalisa Passariello, Ausilia Elce, Felice Amato, Margherita Di Costanzo, Giuseppe Castaldo, Roberto Berni Canani

Registry-linked trialAbstract readReview
In one paragraph

Review in International journal of molecular sciences, 2012. 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 30 papers.

0numbers the graph read from it
0cells of the map it votes in
30citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from 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.

2 · The registry

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.

NCT06721871 phase2 / phase3active not recruitingnot on this mapstarted 2025, after this paper: background citation

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)

TypeinterventionalSponsorNapo Pharmaceuticals, Inc.Ran2025 to 2026Enrolled6ConditionsMicrovillus Inclusion Disease, Congenital Disorders, Rare DiseasesArmsCrofelemer Powder for Oral Solution, Placebo Powder for Oral Solution
3 · Its place in the literature

Who cites it

30 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Diet and Management of Diarrhea.Indian journal of pediatrics · 2024
    Review
  5. Review
  6. Review
  7. Article
  8. Review
  9. Article
  10. Review
  11. Review
  12. Congenital chloride diarrhoea.BMJ case reports · 2019
    Article
  13. Congenital diarrhea in a newborn infant: A case report.World journal of clinical pediatrics · 2019
    Article
  14. Application of Whole Exome Sequencing in Congenital Secretory Diarrhea Diagnosis.Journal of pediatric gastroenterology and nutrition · 2019
    Article
  15. Article
  16. Review
  17. Article
  18. Article
  19. Review
  20. Inflammatory Bowel Disease in Primary Immunodeficiencies.Current allergy and asthma reports · 2017
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors.

Gianluca TerrinDepartment of Gynecology-Obstetrics and Perinatal Medicine, University of Rome "La Sapienza", Viale del Policlinico 1, Rome 00161, Italy.
Rossella TomaiuoloCEINGE-Advanced Biotechnology, Via Comunale Margherita, Naples 80131, Italy.
Annalisa PassarielloDepartment of Pediatrics, University of Naples "Federico II", Via Pansini 5, Naples 80131, Italy.
Ausilia ElceCEINGE-Advanced Biotechnology, Via Comunale Margherita, Naples 80131, Italy.
Felice AmatoCEINGE-Advanced Biotechnology, Via Comunale Margherita, Naples 80131, Italy.
Margherita Di CostanzoDepartment of Pediatrics, University of Naples "Federico II", Via Pansini 5, Naples 80131, Italy.
Giuseppe CastaldoCEINGE-Advanced Biotechnology, Via Comunale Margherita, Naples 80131, Italy.
Roberto Berni CananiDepartment of Pediatrics, University of Naples "Federico II", Via Pansini 5, Naples 80131, Italy.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Congenital diarrheal disorders (CDDs) are a group of inherited enteropathies with a typical onset early in the life. Infants with these disorders have frequently chronic diarrhea of sufficient severity to require parenteral nutrition. For most CDDs the disease-gene is known and molecular analysis may contribute to an unequivocal diagnosis. We review CDDs on the basis of the genetic defect, focusing on the significant contribution of molecular analysis in the complex, multistep diagnostic work-up.

Indexed as

Chronic DiseaseDiarrheaDigestive System DiseasesHumansInfantInfant, NewbornLipid Metabolism, Inborn ErrorsMalabsorption SyndromesMolecular Diagnostic Techniquesabsorption and transport of nutrients and electrolytesdefects of digestiondefects of enterocyte differentiation and polarizationdefects of enteroendocrine cells differentiationdefects of modulation of intestinal immune responsemolecular analysisosmotic diarrheasecretory diarrhea

Identifiers

PMID22605972
PMCPMC3344208

What OpenQuestion holds

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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.