TY - JOUR
T1 - A Century of Progress on Wilson Disease and the Enduring Challenges of Genetics, Diagnosis, and Treatment
AU - Penning, Louis C.
AU - Berenguer, Marina
AU - Czlonkowska, Anna
AU - Double, Kay L.
AU - Dusek, Petr
AU - Espinós, Carmen
AU - Lutsenko, Svetlana
AU - Medici, Valentina
AU - Papenthin, Wiebke
AU - Stremmel, Wolfgang
AU - Willemse, Jose
AU - Weiskirchen, Ralf
N1 - Publisher Copyright:
© 2023 by the authors.
PY - 2023/2
Y1 - 2023/2
N2 - Wilson disease (WD) is a rare, inherited metabolic disorder manifested with varying clinical presentations including hepatic, neurological, psychiatric, and ophthalmological features, often in combination. Causative mutations in the ATP7B gene result in copper accumulation in hepatocytes and/or neurons, but clinical diagnosis remains challenging. Diagnosis is complicated by mild, non-specific presentations, mutations exerting no clear effect on protein function, and inconclusive laboratory tests, particularly regarding serum ceruloplasmin levels. As early diagnosis and effective treatment are crucial to prevent progressive damage, we report here on the establishment of a global collaboration of researchers, clinicians, and patient advocacy groups to identify and address the outstanding challenges posed by WD.
AB - Wilson disease (WD) is a rare, inherited metabolic disorder manifested with varying clinical presentations including hepatic, neurological, psychiatric, and ophthalmological features, often in combination. Causative mutations in the ATP7B gene result in copper accumulation in hepatocytes and/or neurons, but clinical diagnosis remains challenging. Diagnosis is complicated by mild, non-specific presentations, mutations exerting no clear effect on protein function, and inconclusive laboratory tests, particularly regarding serum ceruloplasmin levels. As early diagnosis and effective treatment are crucial to prevent progressive damage, we report here on the establishment of a global collaboration of researchers, clinicians, and patient advocacy groups to identify and address the outstanding challenges posed by WD.
KW - Wilson disease
KW - copper accumulation
KW - hepatic disfunction
KW - neurological disfunction
KW - patients’ involvement
KW - psychiatric disorders
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U2 - 10.3390/biomedicines11020420
DO - 10.3390/biomedicines11020420
M3 - Article
C2 - 36830958
AN - SCOPUS:85148949466
SN - 2227-9059
VL - 11
JO - Biomedicines
JF - Biomedicines
IS - 2
M1 - 420
ER -