Evidence map›Paper›PMID 41401959›Full record

ArticleZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2025

[Clinical and genetic characteristics of 14 children with sodium taurocholate co-transporting polypeptide deficiency].

Rui-Xue Ma, Wen-Hai Luo, Yi-Lin Dai, Gui-Xian Li, Fei Wang, Ou Jiang, Yin-Hong Zhang, Yun-Fen Tian

Abstract readEnglish Abstract
In one paragraph

Article in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Rui-Xue MaDepartment of Pediatrics, First People's Hospital of Yunnan Province/Affiliated Hospital of Kunming University of Science and Technology, Kunming 650032, China.
Wen-Hai LuoDepartment of Pediatrics, First People's Hospital of Yunnan Province/Affiliated Hospital of Kunming University of Science and Technology, Kunming 650032, China.
Yi-Lin DaiDepartment of Pediatrics, First People's Hospital of Yunnan Province/Affiliated Hospital of Kunming University of Science and Technology, Kunming 650032, China.
Gui-Xian LiDepartment of Pediatrics, First People's Hospital of Yunnan Province/Affiliated Hospital of Kunming University of Science and Technology, Kunming 650032, China.
Fei WangDepartment of Pediatrics, First People's Hospital of Yunnan Province/Affiliated Hospital of Kunming University of Science and Technology, Kunming 650032, China.
Ou JiangDepartment of Pediatrics, First People's Hospital of Yunnan Province/Affiliated Hospital of Kunming University of Science and Technology, Kunming 650032, China.
Yin-Hong Zhang
Yun-Fen Tian

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesTo summarize the clinical and genetic characteristics of children with sodium taurocholate co-transporting polypeptide (NTCP) deficiency.

methodsClinical data of children with NTCP deficiency diagnosed and treated at the First People's Hospital of Yunnan Province from July 2022 to March 2025 were retrospectively analyzed.

resultsA total of 14 children were included (6 males, 8 females), all with normal growth and development. Reasons for initial consultation included elevated serum bile acids in 7 cases, jaundice in 4 cases, cholestatic hepatitis in 1 case, and one case each of pneumonia and cow's milk protein allergy. At the first visit, all patients had elevated serum total bile acids beyond the normal range, with a mean of 152.5 μmol/L. Elevated alanine aminotransferase was observed in 1 case, elevated aspartate aminotransferase in 2 cases, and elevated total bilirubin in 10 cases. Genetic sequencing revealed that all children carried the homozygous

conclusionsNTCP deficiency often lacks obvious clinical symptoms and signs. Some children present with transient hyperbilirubinemia, cholestasis, or other liver function abnormalities. Persistent isolated elevation of serum bile acids warrants suspicion for this disease. Biallelic pathogenic variants in

Indexed as

Organic Anion Transporters, Sodium-DependentSymportersBile Acids and SaltsChildChild, PreschoolFemaleHumansInfantMaleRetrospective StudiesBile Acids and SaltsOrganic Anion Transporters, Sodium-Dependentsodium-bile acid cotransporterSymportersChildCholestasisHypercholanemiaNTCP deficiencySLC10A1 gene

Identifiers

PMID41401959
PMCPMC12708075

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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 Socratic graph.