ArticleWorld journal of hepatology2025
Clinical characteristics and genetic causes of unexplained pediatric liver disease.
Article in World journal of hepatology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Whole-exome sequencing illuminates unexplained pediatric cholestatic liver disease.World journal of hepatology · 2026Article
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9 authors.
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Abstract
backgroundIn recent years, the number of pediatric patients with unexplained liver disease has been increasing. Whole-exome sequencing (WES) technology has played a significant role in the diagnosis; however, related studies remain limited.
aimTo investigate the clinical characteristics and genetic causes of unexplained pediatric liver disease to improve the diagnosis and treatment of this disease.
methodsEighty children with unexplained liver disease were divided into two groups: The liver enzyme elevation group (Group A) and the cholestasis group (Group B). Children with both elevated liver enzymes and cholestasis were assigned to Group B. The clinical characteristics of the patients were retrospectively summarized, and WES was performed in the patients and their parents.
resultsGenetic results were obtained in 46 patients (46/80, 57.5%), including 38 in Group A (38/65, 58.5%) and 8 in Group B (8/15, 53.3%). A total of 53 pathogenic or likely pathogenic variants were identified in 42 patients (42/80, 52.5%), including 40 previously reported variants and 13 novel variants. Seven variants of uncertain significance were identified in 7 patients (7/80, 8.8%), of which 4 were novel variants. A total of 19 gene mutations were identified: 2 cases of
conclusionWES significantly improved the etiological diagnosis of unexplained pediatric liver disease, helping guide individualized treatment and improve prognosis.
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