ArticleSao Paulo medical journal = Revista paulista de medicina
Pediatric Wilson's disease: findings in different presentations. A cross-sectional study.
Article in Sao Paulo medical journal = Revista paulista de medicina. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed.
- Addressing the Challenges in the Diagnosis and Management of Pediatric Wilson's Disease-Case Report and Literature Review.Medicina (Kaunas, Lithuania) · 2023Review
- Wilson's Disease Presenting with Generalized Tonic-Clonic Seizure and Cerebellar Dysfunction.International medical case reports journal · 2021Article
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Authors and funding
4 authors.
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Abstract
backgroundWilson's disease (WD) may present with different manifestations: from an asymptomatic state to liver cirrhosis. Here, we aimed to evaluate clinical presentations and laboratory findings and prognoses among WD cases. DESIGN AND
settingCross-sectional study based on patients' records from the university hospital, İnönü University, Malatya, Turkey.
methodsThe medical records of 64 children with WD were evaluated focusing on the clinical, laboratory and liver biopsy findings in different clinical presentations.
resultsThe mean age at diagnosis was 8.6 ± 3.26 years (range 3.5-17) and mean length of follow-up was 2.49 years (range 0-9). There were 18 cases (28.1%), 12 (18.8%), 9 (14.1%) and 6 (9.4%) of chronic liver disease, fulminant liver failure, neurological WD and acute hepatitis, respectively. Nineteen (29.7%) were asymptomatic. The most common sign and laboratory finding were jaundice (45.3%) and hypertransaminasemia (85.9%), respectively. The lowest serum zinc level was found in the fulminant liver failure group (P = 0.035). Hepatosteatosis was detected in 35% of the 20 patients who underwent liver biopsy. Among those with hepatosteatosis, 57.1% were asymptomatic. While 35% had copper staining, 25% presented iron accumulation in liver biopsies. Nine cases underwent liver transplantation and seven of these presented fulminant liver failure (77.8%).
conclusionThe presentation, symptoms and signs of our cases were similar to those in previously reported series, except for the high proportion of fulminant WD cases. Further studies are needed to clarify the relationship between zinc levels and development of a fulminant course and between iron status and WD.
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