ArticleMedicine2017
Genotype and clinical course in 2 Chinese Han siblings with Wilson disease presenting with isolated disabling premature osteoarthritis: A case report.
Article in Medicine, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 14 citations in OpenAlex.
- Renal salt-wasting syndrome with tubular copper deposition in a heterozygous ATP7B carrier: a case report.BMC nephrology · 2026Article
- Cuproptosis in osteoarthritis: Exploring chondrocyte cuproptosis and therapeutic avenues.Journal of orthopaedic translation · 2025Article
- Risk factor prediction and immune correlation analysis of cuproptosis-related gene in osteoarthritis.Journal of cellular and molecular medicine · 2024Article
- Circulating Copper Is Associated with Inflammatory Biomarkers in Greek Older Adults with Osteoarthritis.Biological trace element research · 2024Article
- Copper metabolism in osteoarthritis and its relation to oxidative stress and ferroptosis in chondrocytes.Frontiers in molecular biosciences · 2024Review
- The Daily Intake Levels of Copper, Selenium, and Zinc Are Associated with Osteoarthritis but Not with Rheumatoid Arthritis in a Cross-sectional Study.Biological trace element research · 2023Article
- The Impact of Trace Elements on Osteoarthritis.Frontiers in medicine · 2021Review
- Late Diagnosis of Wilson Disease, Initially Presenting as Cerebellar Atrophy Mimicking Spinocerebellar Ataxia, by Multigene Panel Testing.Annals of laboratory medicine · 2020Article
- Wilson disease patient with rare heterozygous mutations in ATP7B accompanied by distinctive nocturnal enuresis: A case report.Medicine · 2020Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
rationalePremature osteoarthritis (POA) is a rare condition in Wilson disease (WD). Particularly, when POA is the only complaint of a WD patient for a long time, there would be misdiagnosis or missed diagnosis and then treatment delay. PATIENT CONCERNS AND DIAGNOSIS: Two Chinese Han siblings were diagnosed as WD by corneal K-F rings, laboratory test, and mutation analysis. They presented with isolated POA during the first 2 decades or more of their disease course, and were of missed diagnosis during that long time. The older affected sib became disabled due to his severe osteoarthritis when he was as young as 38 years old. Two compound heterozygous pathogenic variants c.2790_2792del and c.2621C>T were revealed in the ATP7B gene through targeted next-generation sequencing (NGS). LESSONS: Adolescent-onset POA could be the only complaint of WD individual for at least 2 decades. Long delay in the treatment of WD's POA could lead to disability in early adulthood. Detailed physical examination, special biochemical test, and genotyping through targeted NGS should greatly reduce diagnosis delay in atypical WD patients with isolated POA phenotype.
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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.