Evidence map›Paper›PMID 42339348›Full record

ArticleACG case reports journal2026

Delayed Diagnosis of Low Phospholipid-Associated Cholelithiasis Syndrome, Consideration of DHCR7 Mutations.

Orr A Meltzer, Sheyla P Medina, Allison Ibarra, Brenton G Davis, Max L Goldman, Nizar A Mukhtar

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in ACG case reports journal, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

6 authors.

Orr A MeltzerDepartment of Internal Medicine, Kaiser Permanente Northern California, Santa Clara, CA.
Sheyla P MedinaDepartment of Gastroenterology, Kaiser Permanente Northern California, San Francisco, CA.
Allison IbarraDepartment of Gastroenterology, Kaiser Permanente Northern California, San Francisco, CA.
Brenton G DavisDepartment of Gastroenterology, Kaiser Permanente Northern California, San Francisco, CA.
Max L GoldmanDepartment of Gastroenterology, Kaiser Permanente Northern California, San Francisco, CA.
Nizar A MukhtarDepartment of Gastroenterology, Kaiser Permanente Northern California, San Francisco, CA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Low phospholipid associated cholelithiasis (LPAC) syndrome is a rare genetic condition caused by mutations in proteins related to bile transport, most commonly heterozygous variants of ATP binding cassette subfamily B member 4 encoding canalicular phospholipid transporter multidrug resistance protein 3. While LPAC responds well to ursodeoxycholic acid treatment, delayed diagnosis can lead to severe complications requiring endoscopic and surgical intervention. We present a middle-aged woman who was ATP binding cassette subfamily B member 4 negative but positive for a likely pathogenic heterozygous DHCR7 variant, with delayed diagnosis of LPAC after multiple biliary complications, ultimately requiring hepatectomy.

Indexed as

ABCB4comet-tail signheterozygous DHCR7 mutationlow phospholipid associated cholelithiasis (LPAC)

Identifiers

PMID42339348
PMCPMC13286467

What OpenQuestion holds

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Registered trials

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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.