Evidence map›Paper›PMID 35763111›Full record

ReviewVirchows Archiv : an international journal of pathology2022

Apoptotic enteropathy, gluten intolerance, and IBD-like inflammation associated with lipotoxicity in DGAT1 deficiency-related diarrhea: a case report of a 17-year-old patient and literature review.

Ellen Deolet, Bert Callewaert, Jeroen Geldof, Stephanie Van Biervliet, Saskia Vande Velde, Jo Van Dorpe, Myriam Van Winckel, Anne Hoorens

Open access · bronzeAbstract readReviewCase Reports
PubMed Publisher
In one paragraph

Review in Virchows Archiv : an international journal of pathology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.7field-weighted citation impact, top 16% of its field
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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 8 citations in OpenAlex.

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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 at 1 institution in 1 country.

Ellen DeoletDepartment of Pathology, Ghent University Hospital, C. Heymanslaan 10, 9000, Ghent, Belgium.ORCID http://orcid.org/0000-0002-5914-2463
Bert CallewaertCenter for Medical Genetics, Ghent University Hospital, 9000, Ghent, Belgium.ORCID http://orcid.org/0000-0002-9743-4205
Jeroen GeldofDepartment of Gastroenterology and Hepatology, Ghent University Hospital, 9000, Ghent, Belgium.ORCID http://orcid.org/0000-0003-0126-2929
Stephanie Van BiervlietDepartment of Paediatric Gastroenterology, Ghent University Hospital, 9000, Ghent, Belgium.ORCID http://orcid.org/0000-0001-5609-3726
Saskia Vande VeldeDepartment of Paediatric Gastroenterology, Ghent University Hospital, 9000, Ghent, Belgium.ORCID http://orcid.org/0000-0002-7885-0836
Jo Van DorpeDepartment of Pathology, Ghent University Hospital, C. Heymanslaan 10, 9000, Ghent, Belgium.ORCID http://orcid.org/0000-0001-8175-2930
Myriam Van WinckelDepartment of Paediatric Gastroenterology, Ghent University Hospital, 9000, Ghent, Belgium.ORCID http://orcid.org/0000-0003-2750-2417
Anne HoorensDepartment of Pathology, Ghent University Hospital, C. Heymanslaan 10, 9000, Ghent, Belgium. anne.hoorens@uzgent.be.ORCID http://orcid.org/0000-0002-0736-2034
Ghent University Hospital · BE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We present a long-term follow-up in a 17-year-old girl with DGAT1-related diarrhea, an autosomal recessive disorder characterized by impaired triglyceride absorption. Neonatal presentation included severe congenital diarrhea, protein-losing enteropathy, and failure to thrive requiring total parenteral nutrition. Duodenal biopsies revealed apoptotic enteropathy and acute inflammation with the presence of macrophages and Touton giant cells, related to the intake of fat. She was able to switch to enteral nutrition on a fat-free diet. However, at age 10, she developed gluten-induced enteropathy and then IBD-like inflammation 5 years later. Immunohistochemistry was able to confirm the diagnosis, while DGAT1 sequencing remained inconclusive. This highlights the role of histopathology and immunohistochemistry, despite the increasing importance of genetic analysis in the diagnostic work-up. This report also illustrates that parenteral nutrition weaning is possible in DGAT1-related diarrhea, but gut barrier dysfunction might increase the risk of autoimmune intestinal disease.

Indexed as

Autoimmune DiseasesCeliac DiseaseInflammatory Bowel DiseasesProtein-Losing EnteropathiesAdolescentChildDiacylglycerol O-AcyltransferaseDiarrheaFemaleHumansInfant, NewbornInflammationDGAT1 protein, humanDiacylglycerol O-AcyltransferaseApoptotic enteropathyAutoimmune intestinal diseaseCongenital diarrheaDGAT-1 mutationProtein losing enteropathyTouton giant cell

Identifiers

PMID35763111
OpenAlexW4283655804

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.