Evidence map›Paper›PMID 40697762›Full record

ArticlePediatric gastroenterology, hepatology & nutrition2025

Genetic Variants and Long-Term Outcomes in Korean Children with Progressive Familial Intrahepatic Cholestasis.

Shinjie Choi, Yeji Kim, Sunwoo Park, Jeong Eun Ahn, Lia Kim, Minsoo Shin, Kyung Jae Lee, Jin Soo Moon, Jae Sung Ko

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In one paragraph

Article in Pediatric gastroenterology, hepatology & nutrition, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Article
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

9 authors.

Shinjie ChoiDepartment of Pediatrics, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea.ORCID https://orcid.org/0009-0002-0618-3445
Yeji KimDepartment of Pediatrics, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea.ORCID https://orcid.org/0000-0002-0854-0883
Sunwoo ParkDepartment of Pediatrics, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea.ORCID https://orcid.org/0000-0002-3112-7528
Jeong Eun AhnDepartment of Pediatrics, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea.ORCID https://orcid.org/0000-0002-4463-4852
Lia KimDepartment of Pediatrics, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea.ORCID https://orcid.org/0000-0003-2261-8242
Minsoo ShinDepartment of Pediatrics, Korea University Ansan Hospital, Ansan, Korea.ORCID https://orcid.org/0000-0002-8438-937X
Kyung Jae LeeDepartment of Pediatrics, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea.ORCID https://orcid.org/0000-0002-3969-384X
Jin Soo MoonDepartment of Pediatrics, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea.ORCID https://orcid.org/0000-0001-9760-297X
Jae Sung KoDepartment of Pediatrics, Seoul National University College of Medicine, Seoul National University Hospital, Seoul, Korea.ORCID https://orcid.org/0000-0002-3064-2974

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Purpose: The aim of this study was to elucidate the genetic variants associated with progressive familial intrahepatic cholestasis (PFIC), a rare class of disorders driven by pathogenic monogenic variants in bile acid transporters. Furthermore, the long-term clinical outcomes of PFIC patients were evaluated. Methods: A retrospective cohort study was conducted at Seoul National University Hospital and included pediatric patients diagnosed with PFIC and confirmed by genetic testing between January 2000 and October 2024. Genetic testing, encompassing either single-gene testing or a neonatal cholestasis 34-gene panel, was performed for all patients. Results: Six patients were identified, including five with PFIC2, classified as bile salt export pump deficiency, and one with PFIC3, classified as multidrug resistance protein 3 deficiency. The median age of symptom onset was 3 months. The genetic analyses revealed no widely known variants associated with PFIC. However, a novel frameshift variant (c.589dup, p.(Glu197GlyfsTer8)) was detected in the Conclusion: This study is the first documented case of PFIC3 in a Korean child. Genotype is not associated with the risk of developing HCC. Given the early diagnosis of HCC observed in some patients, routine surveillance for HCC is strongly recommended in all patients with PFIC2.

Indexed as

ATP-binding cassette sub-family B member 4ATP binding cassette transporter, subfamily BCarcinoma, hepatocellularCholestasis, intrahepaticGenetic variationLiver transplantation

Identifiers

PMID40697762
PMCPMC12277855

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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.