Evidence map›Paper›PMID 41164817›Full record

ArticleFrontiers in genetics2025

Clinical and genetic analysis of

Huifang Peng, Ping Tu, Qiaobo Ma, Jinpeng Tang, Wannv Xiao, Xinyu Hu, Yingyu Zhang, Hongwei Jiang

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 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

8 authors.

Huifang PengHenan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China.
Ping TuEndocrinology Department, Nanchang People's Hospital, Nanchang, China.
Qiaobo MaHenan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China.
Jinpeng TangGraduate School of Jiangxi University of Traditional Chinese Medicine, Nanchang, China.
Wannv XiaoGraduate School of Jiangxi University of Traditional Chinese Medicine, Nanchang, China.
Xinyu HuGraduate School of Jiangxi University of Traditional Chinese Medicine, Nanchang, China.
Yingyu ZhangHenan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China.
Hongwei JiangHenan Key Laboratory of Rare Diseases, Endocrinology and Metabolism Center, The First Affiliated Hospital, and College of Clinical Medicine of Henan University of Science and Technology, Luoyang, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Uric acid is an important metabolic end-product in the human body, and metabolic abnormalities involving uric acid are receiving increasing attention. Methods: This study involved clinical assessment and genetic testing of a 40-year-old male patient who presented with the main complaint of hypouricemia for 7 years. Results: In addition to hypouricemia, the patient showed low urinary uric acid levels, low uric acid excretion rate, and nephrolithiasis. His younger brother also showed extremely low serum uric acid levels. Trio-whole-genome sequencing (trio-WGS) showed that the proband and his younger brother had a compound heterozygous molybdenum cofactor sulfurase (MOCOS) genotype with the pathogenic variant c.1272T>A (p.Cys424Ter) and the likely pathogenic variant c.1418C>T (p.Ser473Leu). The final diagnosis was Xanthinuria type II. A review of the literature for cases of Xanthinuria type II revealed reports describing 25 patients from 17 families. All 25 patients showed very low serum uric acid levels, eight showed urinary tract stones, and three reported joint or limb pain. Truncation pathogenic or likely pathogenic variants of the Conclusion: Sustained low serum uric acid levels may indicate monogenic uric acid metabolism disorders, and these patients should undergo genetic testing. In patients diagnosed with xanthinuria type II caused by

Indexed as

hypouricemiaMOCOSnephrolithiasisrare diseasexanthinuria type II

Identifiers

PMID41164817
PMCPMC12562975

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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.