ArticleJournal of inherited metabolic disease2014
Concordance rates of Wilson's disease phenotype among siblings.
Article in Journal of inherited metabolic disease, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 12 papers.
What it found
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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.
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Who cites it
12 citing papers in PubMed, 25 citations in OpenAlex.
- Prognosis of pediatric hepatic Wilson disease with ATP7B loss of function variants.Clinical and experimental pediatrics · 2026Article
- Distal renal tubular acidosis as presenting manifestation of Wilson disease in a 11-year-old girl.CEN case reports · 2024Article
- Role of gender and age in features of Wilson's disease.Frontiers in neurology · 2023Article
- Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype.BMC medical genetics · 2020Article
- Clinical presentations of Wilson disease.Annals of translational medicine · 2019Review
- Genetics and epigenetic factors of Wilson disease.Annals of translational medicine · 2019Review
- Wilson disease: At the crossroads between genetics and epigenetics-A review of the evidence.Liver research (Beijing, China) · 2017Article
- Phenotypes and Chronic Organ Damage May Be Different among Siblings with Wilson's Disease.Journal of clinical and translational hepatology · 2017Article
- The genetics of Wilson disease.Handbook of clinical neurology · 2017Review
- Update on the clinical management of Wilson's disease.The application of clinical genetics · 2017Review
- Article
- Article
Corrections and comments
- Erratum issued
Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Wilson's disease (WD) is an autosomal recessive disorder characterized by the functional disruption of adenosine triphosphatase 7B (ATP7B), which results in positive copper balance. Although the primary manifestations of the disease are hepatic or neurological in scope, the factors that cause a very diverse picture of WD are not well researched. We compared the first clinical presentation, ages of onset and diagnosis, copper metabolism parameters, and ceruloplasmin levels between index cases (ICs) and their siblings. We examined 73 ICs and 95 siblings from 73 families, including a total of 168 patients with biochemical and genetically confirmed WD diagnoses. We observed an 86% concordance rate of primary clinical symptoms among ICs with hepatic symptoms and their siblings. There was 66% concordance among ICs with neurological symptoms and their siblings. No differences regarding age at onset of symptoms or copper metabolism parameters at diagnosis were identified between hepatic ICs and their siblings. The age at symptom onset did not differ between neurological ICs and their siblings, although ICs presented lower ceruloplasmin and serum copper levels. These results demonstrate a high intra-familial concordance of the clinical and biochemical presentation of WD, suggesting that similar factors shared within the same families strongly influence the disease presentation.
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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.