Pathogenesis explanation of hepatolenticular degeneration along the "liver-kidney-brain" axis and differentiation and treatment strategies of traditional Chinese medicine

Hepatolenticular degeneration is an autosomal recessive hereditary disease characterized by copper metabolism disorder, which affects the liver, kidneys, and brain. In traditional Chinese medicine, this disease is closely associated with dysfunction of the "liver-kidney-brain" axis. The liver, kidney, and brain form a physiological whole through the mutual transformation and distribution of essence and blood, the coordination of qi transformation, and the connection of meridians and collaterals. This article explores the pathogenesis of hepatolenticular degeneration based on the "liver-kidney-brain" axis. The deficiency of liver and kidney essence leads to the malnutrition of brain marrow, which is the fundamental cause of the disease. The internal accumulation of copper toxins generates dampness-heat and phlegm-stasis, which are the key factors causing the disease. In view of the characteristics of this disease with deficiency in nature and excess in superficiality, the principle of dynamic treating both manifestation and root cause of disease is established: treating the manifestation starts with eliminating copper and detoxifying, combined with clearing heat and dampness, and removing phlegm and stasis; treating the root cause follows the concept of the same origin of yi and gui, emphasizing the simultaneous treatment of liver and kidney to nourish the brain marrow. Throughout the treatment process, copper elimination (treating the symptoms) should be taken into account, and stratified measures should be applied based on the primary focus of the lesion: either treating the liver as the main focus and supplemented by tonifying the kidney and filling the marrow; or treating the kidney as the main focus and assisted by regulating the liver and nourishing the brain; or co-regulating the three zang-organs of liver, kidney, and brain, to achieve the therapeutic goal of eliminating pathogenic factors and restoring normal functions, and combining tonification and purgation.