Evidence map›Paper›PMID 40665261›Full record

ArticleBMC gastroenterology2025

Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical features, genetic characteristics, and treatment outcomes.

Yigui Zou, Yu Dai, Liang Liu, Qinghua Yang, Wenwen Li, Yilin Dong, Sicong Li, Yongwei Cheng, Dongling Dai

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PubMed Full text at PMC Publisher
In one paragraph

Article in BMC gastroenterology, 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.

Yigui ZouInternational Medical Center, Endoscopy Center and Gastroenterology Department, Shenzhen Children's Hospital, Shenzhen, Guangdong, 518036, China.
Yu DaiChildren's Healthcare and Mental Health Center, Shenzhen Children's Hospital, Shenzhen, Guangdong, 518036, China.
Liang LiuInternational Medical Center, Endoscopy Center and Gastroenterology Department, Shenzhen Children's Hospital, Shenzhen, Guangdong, 518036, China.
Qinghua YangInternational Medical Center, Endoscopy Center and Gastroenterology Department, Shenzhen Children's Hospital, Shenzhen, Guangdong, 518036, China.
Wenwen LiInternational Medical Center, Endoscopy Center and Gastroenterology Department, Shenzhen Children's Hospital, Shenzhen, Guangdong, 518036, China.
Yilin DongInternational Medical Center, Endoscopy Center and Gastroenterology Department, Shenzhen Children's Hospital, Shenzhen, Guangdong, 518036, China.
Sicong LiInternational Medical Center, Endoscopy Center and Gastroenterology Department, Shenzhen Children's Hospital, Shenzhen, Guangdong, 518036, China.
Yongwei ChengDepartment of Gastroenterology, Shenzhen Children's Hospital, Shenzhen, Guangdong, 518036, China.
Dongling DaiInternational Medical Center, Endoscopy Center and Gastroenterology Department, Shenzhen Children's Hospital, Shenzhen, Guangdong, 518036, China. daidong3529@sina.com.

Funding

Guangdong High-level Hospital Construction Fund Clinical Research Project of Shenzhen Children's Hospital LCYJ2022059Shenzhen Science and Technology Innovation Program JCYJ20220818102801004
6 · The paper itself

Abstract

backgroundNeonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is an autosomal recessive disorder with heterogeneous clinical manifestations. This study aimed to characterize the clinical, biochemical, and genetic spectrum of NICCD and evaluate treatment outcomes.

methodsThis retrospective cohort study analyzed molecularly confirmed cases of NICCD admitted to Shenzhen Children's Hospital between March 2019 and April 2023. Comprehensive clinical data were extracted from electronic records and analyzed using descriptive statistical methods.

resultsThe cohort (n = 15) demonstrated universal jaundice (100%) and hyperammonemia (93.3%), with the predominant c.851_854del variant (52%) associated with earliest onset (median 3 days) and most severe cholestatic features (100% jaundice, 60% hepatomegaly). Key metabolic abnormalities included universal citrulline elevation (100%) and frequent methionine increase (93.3%), while threonine/tyrosine disturbances showed genotype-dependent patterns. All patients achieved complete symptom resolution (median 32 days) and significant growth improvement with lactose-free MCT formula and ursodeoxycholic acid therapy, though rare variants (compound heterozygous c.1399 C > T/c.1638_1660dup) exhibited markedly prolonged recovery (88 days vs. cohort median 32 days).

conclusionsThis study delineates the clinical-genetic spectrum of NICCD and confirms the efficacy of MCT-based therapy. Genotype-phenotype correlations suggest variant-specific disease severity, warranting multicenter validation for rare mutations.

Indexed as

Calcium-Binding ProteinsCholestasis, IntrahepaticCitrullinemiaOrganic Anion TransportersCholagogues and CholereticsCitrullineFemaleHumansHyperammonemiaInfantInfant, NewbornMaleMitochondrial Membrane Transport ProteinsRetrospective StudiesTreatment OutcomeUrsodeoxycholic AcidCalcium-Binding ProteinsCholagogues and CholereticscitrinCitrullineMitochondrial Membrane Transport ProteinsOrganic Anion TransportersSLC25A13 protein, humanUrsodeoxycholic AcidCitrin deficiencyMetabolic cholestasisNICCDOutcomesSLC25A13

Identifiers

PMID40665261
PMCPMC12261784

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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.