Wilson disease

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Description from OMIM

Wilson disease is an autosomal recessive disorder characterized by dramatic build-up of intracellular hepatic copper with subsequent hepatic and neurologic abnormalities. De Bie et al. (2007) provided a detailed review of the molecular pathogenesis of Wilson disease.



Prevalence of clinical parameters (%)







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Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Kayser-Fleischer ring nervous 95 % 17435591 2014-05-07
Ceruloplasmin levels low circulatory 93 % 17435591 2014-05-07
Increased urinary copper urinary 70 % 17435591 2014-05-07
Bradykinesia nervous 62 % 17435591 2014-05-07
Rigidity nervous 62 % 17435591 2014-05-07
Anemia circulatory 49 % 17435591 2014-05-07
Cerebral atrophy nervous 45 % 17435591 2014-05-07
Ventriculomegaly nervous 44 % 17435591 2014-05-07
Jaundice digestive 40 % 17435591 2014-05-07
Hepatomegaly digestive 39 % 17435591 2014-05-07
Splenomegaly circulatory 37 % 17435591 2014-05-07
Dystonia nervous 35 % 17435591 2014-05-07
Brainstem atrophy nervous 32 % 17435591 2014-05-07
Thrombocytopenia circulatory 29 % 17435591 2014-05-07
Ataxia nervous 28 % 17435591 2014-05-07
Hypocalcemia circulatory 27 % 17435591 2014-05-07
Basal ganglia pathology nervous 25 % 17435591 2014-05-07
Cerebellar atrophy nervous 19 % 17435591 2014-05-07
Pyramidal signs nervous 16 % 17435591 2014-05-07
Arthralgia skeletal 13 % 17435591 2014-05-07
Ascites digestive 12 % 17435591 2014-05-07
Increased blood transaminase circulatory 12 % 17435591 2014-05-07
Chorea nervous 9 % 17435591 2014-05-07
Seizures nervous 8 % 17435591 2014-05-07
Increased blood bilirubin circulatory 8 % 17435591 2014-05-07
Myoclonus nervous 3 % 17435591 2014-05-07
Athetosis nervous 2 % 17435591 2014-05-07
Bleeding circulatory 2 % 17435591 2014-05-07
Arthritis skeletal 2 % 17435591 2014-05-07
Hypophosphatemia circulatory 2 % 17435591 2014-05-07



List of references:


Wilson disease: description of 282 patients evaluated over 3 decades.
Arun B Taly, S Meenakshi-Sundaram, Sanjib Sinha, H S Swamy, G R Arunodaya,

The clinical manifestations of Wilson disease (WD) are varied and challenging. We conducted the current study to present the phenotypic characteristics and follow-up for a large cohort of patients with WD. We reviewed the medical records of 282 cases of WD (male:female ratio, 196:86) for clinical features, investigations, treatment, and outcome data. The clinical presentations were as follows: hepatic, 42 (14.9%); hepato-neurologic, 10 (3.5%); neurologic, 195 (69.1%); pure psychiatric, 7 (2.4%); osseomuscular, 6 (2.1%); and "presymptomatic," 15 (5.3%). Mean age was 15.9 years. Presymptomatic patients and those with the hepatic form of WD were younger and patients with osseomuscular and psychiatric forms were older than neurologic patients. The mean duration of illness at the time of diagnosis was 28 months. Predominant neurologic features were as follows: parkinsonism, 62.3%; dystonia, 35.4%; cerebellar, 28%; pyramidal signs, 16%; chorea, 9%; athetosis, 2.2%; myoclonus, 3.4%; and behavioral abnormalities, 16%. Kayser-Fleischer (KF) rings were seen as follows: neurologic patients, 100%; hepatic patients, 86%; and presymptomatic patients, 59%. Positive family history was noted in 47% and consanguinity in 54%. Patients born of consanguineous parents had an earlier age of onset and shorter duration of illness before presentation. Serum ceruloplasmin was decreased in 93% and 24-hour urinary copper excretion was increased in 70% of patients. Neuroimaging (computed tomography/magnetic resonance imaging) and electrophysiologic abnormalities were seen in many patients. Overall, 195 patients were on D-penicillamine therapy and 182 on zinc sulphate. Follow-up data, available for 225 patients, for a mean duration of 46 months, revealed improvement in 176, no change in 20, and deterioration in 6. Twenty-three patients died. To conclude, despite increased awareness and recognition and significant inroads into therapeutic frontiers, follow-up remains poor in developing countries and a return to previous level of functioning is not universal.

Medicine - Mar 2007