Study of Pediatric Wilson Disease in Egypt
Author Information
Author(s): Abdel Ghaffar Tawhid, Elsayed Solaf M, Elnaghy Suzan, Shadeed Ahmed, Elsobky Ezzat S, Schmidt Hartmut
Primary Institution: Yassin Abdel Ghaffar Charity Center for Liver Disease and Research, Cairo, Egypt
Hypothesis
The study aims to characterize the clinical, laboratory, and genetic features of Wilson disease in a pediatric population in Egypt.
Conclusion
Egyptian children with Wilson disease present with early Kayser-Fleischer rings and early onset of liver and neurological disease.
Supporting Evidence
- Patients had a younger age of onset (median: 10 years) compared to other populations.
- 97.6% of symptomatic patients had Kayser-Fleischer rings.
- Low ceruloplasmin levels were found in 93.5% of patients.
- Parental consanguinity was high at 78.9%, indicating a genetic component.
- 71.42% of patients on long-term D-penicillamine improved or were stable during follow-up.
Takeaway
This study looked at children in Egypt with Wilson disease, which affects how their bodies handle copper, and found they often show symptoms earlier than kids in other countries.
Methodology
The study included 77 patients from 50 families, with data collected retrospectively through record analysis and patient interviews, and diagnosis confirmed by ATP7B gene sequencing.
Potential Biases
Potential bias due to the high rate of consanguinity in the population, which may affect the generalizability of the findings.
Limitations
The study is limited by the retrospective design and the challenges in obtaining accurate 24-hour urine collections for copper excretion tests.
Participant Demographics
The cohort included 75 children and 2 adult cousins, with 43 males and 34 females, and a high rate of parental consanguinity (78.9%).
Statistical Information
P-Value
0.017
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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