Description

Wilson's Disease explained (Hepatolenticular Degeneration), including its pathophysiology and genetics, signs and symptoms, diagnosis (with criteria!) and treatment options. 

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Timestamps:
0:00 What is Wilson’s Disease
0:21 Wilson’s Disease Pathophysiology
2:06 Wilson’s Disease Symptoms
3:37 Wilson’s Disease Causes
4:07 Wilson’s Disease Diagnosis 
5:46 Wilson’s Disease Criteria (Leipzig Score)
6:20 Wilson’s Disease Treatment 

References:

1. BMJ Best Practice (2024) Wilson’s Disease. Available at https://bestpractice.bmj.com/topics/en-gb/427/
2. Larry E. Johnson - MSD Manual Pro (2023) Wilson Disease. Available at https://www.msdmanuals.com/professional/nutritional-disorders/mineral-deficiency-and-toxicity/wilson-disease
3. Gaillard F, Deng F, Weerakkody Y, et al. (2020) Face of the giant panda sign (midbrain). Available at https://radiopaedia.org/articles/face-of-the-giant-panda-sign-midbrain
4. Wu, Fei & Wang, Jing & Pu, Chunwen & Qiao, Liang & Jiang, Chunmeng (2015) Wilson’s Disease: A Comprehensive Review of the Molecular Mechanisms. Available at https://www.researchgate.net/figure/Copper-is-delivered-by-HCTR1-to-cytosol-where-it-mainly-binds-to-Atox1-Atox1-transfers_fig2_276910514

Please remember this podcast and all content from Rhesus Medicine is meant for educational purposes only and should not be used as a guide to diagnose or to treat. Please consult a healthcare professional for medical advice.