Title: Analysis of tissue copper levels as a reliable diagnostic tool in paediatric liver disease 

Source: European Journal of Pediatrics 2025, 185 (1): 23  

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Date of publication: December 2025

Publication type: Article

Abstract: Elevated tissue copper levels are a useful diagnostic tool for the diagnosis of Wilson’s disease (WD). However, the exact cut-off level for diagnosis is widely disputed, and elevated hepatic copper levels have been demonstrated in other liver diseases. This study, therefore, aims to evaluate the diagnostic accuracy of tissue copper levels derived from paediatric liver biopsies. Copper measurements including liver tissue copper, serum ceruloplasmin, and 24-h urinary copper were derived from electronic patient records and retrospectively analysed in children ≤ 18 years old with paediatric liver disease. Data was derived from children who attended for liver biopsy between June 2012 and October 2021. Mann-Whitney U tests were performed to test the difference between tissue copper in those with WD and non-Wilson’s liver disease (NWLD). A total of 98 children were included in the final analyses. Those with WD had a significantly higher tissue copper level than NWLD (p < 0.0001). Only one of 23 children with untreated WD had a tissue copper level < 250 µg/g. Thirty-nine percent of people with WD were identified as having steatosis compared to 25% of the NWLD. Excluding one person, all those in the NWLD group with steatosis had metabolic dysfunction-associated steatotic liver disease.

Conclusion: The cut-off level of ≥ 250 µg/g tissue copper may be reliably used to predict WD in children. The variables, low ceruloplasmin and presence of steatosis, should be used to come to a more reliable conclusion in children with tissue copper levels < 250 μg/g. The median tissue copper level in NWLD was < 250 μg/g. However, the use of tissue copper level alone to diagnose WD is precarious; thus, it should be used in combination with histopathology and biochemistry.

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Title: Liver transplantation for pediatric genetic and metabolic disorders  

Source: Liver Transplantation 2024, Aug 23. [E–publication]

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Date of publication: August 2024

Publication type: Review article

Abstract: Pediatric genetic and metabolic liver diseases comprise a broad spectrum of conditions and represent the second most common indication for liver transplantation following biliary atresia. The decision to transplant can be challenging and requires consideration of several factors including hepatic involvement, extra-hepatic manifestations, and anticipated post-transplant outcomes. This review examines pediatric genetic and metabolic liver diseases, their pathophysiology, clinical presentation, and the role of liver transplantation.

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Title: Clinical characteristics and prognosis of early diagnosed Wilson’s disease: a large cohort study

Source: Liver International 2024, Jun 7. [E–publication]

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Date of publication: June 2024  

Publication type: Cohort study

Abstract: Background and aims: Few studies have focused on the outcomes of Wilson’s disease (WD) diagnosed before age of 5 years. This study aimed to summarize the clinical features of early diagnosed WD and analyse treatment outcomes and the risk factors associated with treatment failure.

Methods: A total of 139 children confirmed with WD before 5 years were enrolled in this study. Only patients with follow-up over 1 year were analysed with Kaplan-Meier survival analysis. The composite outcomes included death, progression to liver failure or acute hepatitis, development of renal or neurological symptoms and persistent elevation of alanine aminotransferase (ALT). The treatment failure was defined as occurrence of at least one of above outcomes.

Results: Among 139 WD patients at diagnosis, two (1.4%) WD patients presented with symptomatic liver disease, whereas 137 (98.6%) were phenotypically asymptomatic, including 135 with elevated ALT and 2 with normal liver function. Median serum ceruloplasmin (Cp) was 3.1 mg/dL, and urinary copper excretion was 87.4 μg/24-h. There were 71 variants identified in the the copper-transporting ATPase beta gene, and 29 were loss of function (LOF). 51 patients with LOF variant were younger at diagnosis and had lower Cp than 88 patients without LOF. Among 93 patients with over 1 year of follow-up, 19 (20.4%) received zinc monotherapy, and 74 (79.6%) received a zinc/D-penicillamine combination therapy. 14 (15.1%) patients underwent treatment failure, and its occurrence was associated with poor compliance (p < .01).

Conclusions: Cp is a reliable biomarker for early diagnosis, and zinc monotherapy is an effective treatment for WD during early childhood. Good treatment compliance is critical to achieve a favourable outcome.

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