The current Status and New Advances in Diagnosis and Treatment of Wilson Disease
G. V. N. Kiranmayi¹, K. Ravi Shankar² and V. Chandrasekhar Nainala²¹Department of Pharmacy, Sri Vishnu College of Pharmacy, Vishnupur, Bhimawaram - 534202 West Godavari District, A.P., India.
²Sri Sai Aditya Institute of Pharmaceutical Sciences and Research, ADB Road, Surampalem, East Godavari, A.P. India.
³Aditya Institute of Pharmaceutical Sciences and Research, A.P. India.
Abstract: Wilson disease is an inherited, autosomal recessive, copper accumulation and toxicity disorder that affects about 30 individuals per million. This rare disease is caused by mutations in the gene encoding a copper-transporting P-type ATPase, which is important for copper excretion into bile, leading to copper accumulation in the liver. Toxic copper concentrations can also be found in the brain and kidney, and clinical phenotypes include hepatic, haemolytic, neurologic and psychiatric diseases. Diagnosis is based on the combination of clinical features and findings such as increased urinary copper excretion, reduced levels of serum ceruloplasmin, high concentrations of copper in liver tissuesand Kayser–Fleischer rings, biochemical and immunological markers,magnetic resonance imaging ,neuropathological study. Genetic studies are also becoming available for clinical use, but the utility of direct mutation analysis is limited.
Keywords: Wilson disease; new advances; diagnosis; treatment Back to TOC