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Pilot study of screening for Wilson disease using dried blood spots obtained from children seen at outpatient clinics
T Ohura1, D Abukawa, H Shiraishi
1Department of Pediatrics, Tohoku University School of Medicine, Sendi, Japan. tohura@ped.med.tohoku.ac.jp
Insights
Screening for Wilson disease (WD) in children aged 1–6 years using ceruloplasmin (CP) levels in dried blood samples identified two presymptomatic cases. This pilot study suggests CP testing is a reliable method for early WD detection.
Area of Science:
- Genetics
- Biochemistry
- Pediatrics
Background:
- Wilson disease (WD) is an inherited disorder causing copper buildup, potentially leading to severe liver and neurological damage.
- Early detection and intervention are crucial for managing WD and preventing irreversible complications.
Observation:
- A pilot study screened 2789 children aged 1–6 years in Miyagi Prefecture for WD using ceruloplasmin (CP) levels in dried blood samples.
- Two children with markedly reduced CP concentrations were identified; they were otherwise asymptomatic with normal growth and development.
Findings:
- Genetic analysis confirmed Wilson disease in the two identified children, revealing specific mutations (A803T/2871delC and R778L/G1035V).
- These individuals were diagnosed as presymptomatic WD patients, indicating the disease was detected before clinical manifestation.
Implications:
- Ceruloplasmin determination in dried blood samples shows promise as a reliable and accessible biomarker for early Wilson disease screening in pediatric populations.
- This approach could facilitate timely diagnosis and treatment, significantly improving patient outcomes and long-term prognosis.
Abstract:
Wilson disease (WD) is an autosomal recessive disorder of copper accumulation leading to liver and/or brain damage. In this paper, we describe the results of a pilot study of screening for WD using ceruloplasmin determinations in dried blood samples. Specimens were collected from children aged 1 to 6 years who were seen at local paediatric outpatient clinics in the Miyagi Prefecture. We measured ceruloplasmin (CP) concentrations in 2789 children using an enzyme-linked immunosorbent assay. The mean value was 12.4 +/- 3.95 mg/dl blood. Among these children, we identified two (case 1, male, 2 years old; case 2, female, 3 years old) with markedly reduced CP concentrations. Apart from low serum copper concentrations, their biochemical findings were almost normal, as were growth and development. To confirm the diagnosis, we analysed the WD gene and detected A803T/2871delC mutations in case 1 and R778L/G1035V mutations in case 2. We conclude that these children were presymptomatic WD patients. The CP level in dried blood samples from children aged 1 to 6 years appears to be a reliable marker for early detection of WD.