Evidence map›Paper›PMID 40487546›Full record

ArticleWorld journal of clinical cases2025

Genetic disorders leading to severe hyperlipidemia in children: A case report.

Chun-Xin Jiang, Yu-Lin Meng, Dong Chen, Lian-Ping Shi, Guang Yang, Yang Guo, Bo Zhang, Zi-Chen Zhai, Zhi-Jian Wu, Tie-Nan Liu and 3 more

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

Article in World journal of clinical cases, 2025. 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

13 authors.

Chun-Xin JiangDepartment of Cardiology, North China University of Science and Technology Affiliated Hospital, Tangshan 063000, Hebei Province, China.
Yu-Lin MengHealth Screening Section, North China University of Science and Technology Affiliated Hospital, Tangshan 063000, Hebei Province, China.
Dong ChenNutrition Section, North China University of Science and Technology Affiliated Hospital, Tangshan 063000, Hebei Province, China.
Lian-Ping ShiDepartment of Cardiology, North China University of Science and Technology Affiliated Hospital, Tangshan 063000, Hebei Province, China.
Guang YangDepartment of Cardiology, North China University of Science and Technology Affiliated Hospital, Tangshan 063000, Hebei Province, China.
Yang GuoNutrition Section, North China University of Science and Technology Affiliated Hospital, Tangshan 063000, Hebei Province, China.
Bo ZhangNutrition Section, North China University of Science and Technology Affiliated Hospital, Tangshan 063000, Hebei Province, China.
Zi-Chen ZhaiNutrition Section, North China University of Science and Technology Affiliated Hospital, Tangshan 063000, Hebei Province, China.
Zhi-Jian WuNutrition Section, North China University of Science and Technology Affiliated Hospital, Tangshan 063000, Hebei Province, China.
Tie-Nan LiuDepartment of Cardiology, North China University of Science and Technology Affiliated Hospital, Tangshan 063000, Hebei Province, China.
Zhi-Jun WangDepartment of Cardiology, North China University of Science and Technology Affiliated Hospital, Tangshan 063000, Hebei Province, China.
Xiao TianHemodialysis Center, North China University of Science and Technology Affiliated Hospital, Tangshan 063000, Hebei Province, China.
Peng-Yu SuDepartment of Cardiology, North China University of Science and Technology Affiliated Hospital, Tangshan 063000, Hebei Province, China. yezi9725@sina.com.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundAlagille syndrome is a rare autosomal dominant genetic disorder involving multiple organ systems. Its most common manifestations are chronic cholestasis caused by intrahepatic bile duct deficiency and severe hypercholesterolemia as a result of impaired cholesterol metabolism. This report describes a patient with Alagille syndrome in whom a CASE SUMMARY: The patient presented with severe hypercholesterolemia, biliary and hepatic impairment, pruritus, and triangular facial features. Mutations in the

conclusionThe possibility of Alagille syndrome should be considered in children who present with abnormal liver function and severe hypercholesterolemia. Genetic testing is needed to screen for disease-causing mutations and the disease can be treated with Traditional Chinese medicine.

Indexed as

Alagille syndromeCase reportCholestasisGenetic mutationHyperlipidemiaJAG1Low density lipoprotein cholesterolTraditional Chinese medicine

Identifiers

PMID40487546
PMCPMC11843072

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.