Article
Diagnostic challenges in progressive familial intrahepatic cholestasis type 3 (PFIC3) misdiagnosed as Wilson's disease: A systematic review.
Advances in clinical and experimental medicine : official organ Wroclaw Medical University - 1 Jul 2026
Gadour Eyad, Miutescu Bogdan, Alqahtani Mohammed Saad, Vuletici Deiana, Elsayed Ghassan, Domilescu Ielmina, Facciorusso Antonio
Abstract excerpt
Progressive familial intrahepatic cholestasis type 3 (PFIC3) is a rare liver disorder caused by biallelic mutations in the ABCB4 gene, leading to multidrug resistance protein 3 (MDR3) deficiency. PFIC3 often presents with clinical and biochemical features that overlap with Wilson's disease (WD), including hepatic copper accumulation and elevated urinary copper excretion. These similarities contribute to frequent...
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