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AI Summary & Key Takeaways
AI Insight⚡ TL;DR(Too Long; Didn't Read)
In this report, we describea Turkish female child with cholestatic hepatitis of unknown etiology who was later diagnosed with typical FMF.
📌 3 Key Takeaways
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Objective & Hypothesis:Wilson’s disease (hepatolenticular degeneration) is an autosomal recessive defect in cellular copper transport.
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Key Findings & Data:Impaired biliary copper excretion leadsto an accumulation of copper mostly in the liver, brain and cornea.
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Conclusion & Impact:In this report, we describea Turkish female child with cholestatic hepatitis of unknown etiology who was later diagnosed with typical FMF.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Özet
Wilson’s disease (hepatolenticular degeneration) is an autosomal recessive defect in cellular copper transport. Impaired biliary copper excretion leadsto an accumulation of copper mostly in the liver, brain and cornea. Familial Mediterranean Fever (FMF) is an autosomal recessive autoimmune diseaseas a result of a mutation in the MEFV gene encoding pyrin protein characterized by recurring fever and polyserositis attacks. In this report, we describea Turkish female child with cholestatic hepatitis of unknown etiology who was later diagnosed with typical FMF.
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Cite This Article
TURAN, C., KARAKOYUN, M., ECEVİT, Ç. Ö., BARBET, F. Y., AYDOĞDU, S. (2018). Familial Mediterranean Fever Mimicking Wilson’s Disease: A Case Report. The Journal of Pediatric Research, Cilt: 5 - Sayı: 3, 153–155. https://ajindex.com/articles/362741