ISSN:
1573-2665
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
Abstract Wilson's disease is an inherited metabolic disorder affecting children, adolescents and young adults. Before puberty the initial signs and symptoms are almost always related to liver damage, with or without haemolysis. After puberty neurological signs become increasingly prominent, always involving the motor centres, sometimes personality, never the sensory nervous system. The most characteristic physical sign is the Kayser Fleischer corneal pigment ring resulting from deposition of copper in Descemet's membrane. The primary genetic defect is not known but the disease appears to result from a failure, by the hepatocytes, to excrete copper via the bile. As a result this metal accumulates first in the liver then, when this organ is saturated, in the brain, the corneae, and to a lesser extent the kidneys. Once present in excess in the tissues copper poisons various enzyme systems leading to cellular damage and death. At present there is no satisfactory explanation for the pleomorphic nature of the disease much less of the often gross assymetry of the lesions in the brain. Treatment entails the establishment of a negative copper balance until the abnormal body stores of the metal have been removed. Thereafter the patient must be kept in balance for life. There are two main drugs available for this purpose, penicillamine and triethylene tetramine (Trientine). Both will achieve biochemical and clinical reversal of the disease. Penicillamine can give rise to a wide range of toxic reactions, mostly on an immunological basis; it is therefore essential to monitor the blood count and renal function regularly. Less is known at present of the potential of Trientine to induce unwanted side effects. Wilson's disease is characterized by recessive inheritance. It can be diagnosed in the presymptomatic stage by finding typical abnormalities of copper metabolism. All families should be screened and, where appropriate, prophylactic treatment started, thus aborting the clinical evolution of the disease.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01811324
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