h�T]� morbid diseases, including congestive heart failure with past history of such episodes. and JavaScript.Wilson's disease (WD) is an inborn error of copper metabolism caused by a mutation to the copper-transporting gene Wilson's disease is an inborn error of copper metabolism caused by a mutation to the copper-transporting gene Diagnosis of the condition is made primarily on the basis of clinical findings, presence of the Kayser–Fleischer ring, and biochemical parametersA new scoring system for diagnosis of the condition was proposed at the 8th International Conference on Wilson Disease and Menkes Disease, 2001Treatment involves the use of a chelating agent, the most commonly used being Liver transplantation can be used for complete reversal of the metabolic abnormalityEarly detection of presymptomatic individuals in affected families can be achieved by polymerase-chain-reaction-based linkage analysis using microsatellite markersGet time limited or full article access on ReadCube.Wilson SAK (1912) Progressive lenticular degeneration: a familial nervous disease associated with cirrhosis of the liver. 0000009836 00000 n ?�� endobj 0000013507 00000 n
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disease do not possess two of these three criteria and pose a challenge in trying to establish the diagnosis.19 More-over, as with other liver diseases, patients may come to medical attention when their clinical disease is compara-tively mild. /Font << /F11 24 0 R /F14 27 0 R /F17 30 0 R /F22 35 0 R /F25 38 0 R >> In Le Witt P and Pfeiffe R (2002) Neurologic aspects of Wilson's disease: clinical manifestations and treatment considerations. The manifestations of the disease are related directly to this accumulation of copper. << �_z�~�^��X��U3��u��p�H�-��5�G���vdǬ]\��Ruc��j�S~Qa;>h��Oe������~ &a�-��R�"HČ��ӌ-3��PWS�V�^v�� Uߏ���� �9S((X&ي��T5 p�R��^GD��淫�Mȗ ���\;���#���FPZ�V�'��=���b���~`T(����kT�����zJ0�j�d �o��W��:�k�bӀ��d��{p\�a҈��@[�� FtSH�ܳ�j�0y/ ��ڔlޯ�E kM4!���dje�>¸�3F@t�� �C����mA� �x�a�"���J�#h�ލE�y���xF�]J�i1� X)"a�>Qp�c�CMD��Pj�0��Ͱ�j�������|nh#��&vj���49������^U� ��qҨ�!ߎ�Wj}�`�8mFE�"edvl�Ag���� kz�qBYk�#mgj2���K���jK�,u���Y�;��-{>B���:�{;����z]�)�aÑ���Nw�����Q��j� $�פ �7�8X��M����8 K§n� j�g���&i�`�]��$vO�f'" 0000007966 00000 n /CropBox [0 0 596 842]
/Contents 23 0 R Harris ED (2000) Cellular copper transport and metabolism. >> 0000000852 00000 n /ID [<28bf4e5e4e758a4164004e56fffa0108><28bf4e5e4e758a4164004e56fffa0108>] ��,� �3�b�m;`�$��j��������2L��ZrI�� 0000007010 00000 n Kuruvilla A and Joseph S (2000) 'Face of the giant Panda' sign in Wilson's disease: revisited. stream
0000012349 00000 n Walshe JM (1982) Treatment of Wilson's disease with trientine (triethylamine tetramine dihydrochloride). D-penicillamine, Vit c, Zinc, trientine, liver transplantation is used to treat Wilson disease. Frommer DJ (1974) Defective biliary excretion of copper in Wilson's disease.
/L 35934 He first described the neurological form of disease, which ran in family . At another time, a number of differential diagnoses would have come to one's mind, and as our training has guided us, proceed to treat the patient after a thorough review of her history, a systemic examination, review of records and investigations as required. >> >>
T 0� R h ' Key words: ATP7B gene, copper, diagnosis, treatment, wilson disease. 0000000017 00000 n
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Wilson's disease is an inherited disorder of copper metabolism caused by a mutation in the copper-transporting gene ATP7B, and it results in excessive copper accumulation in the liver and brain.
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