| WILSON DISEASE (WD) | |
| HEPATOLENTICULAR DEGENERATION | |
|
277900
OMIM = Online Mendelian Inheritance of Men | |
|
905 | |
| Copper-transporting ATPase 2 | |
| rare (1:30000-100000 in France) autosomal recessive mutation in the ATP7B gene Chronic liver disease in children or young adults is Wilson disease until proved otherwise .. (Danks DM 1990) | |
| Laboratory findings | Bilirubin inc (serum) Ceruloplasmin inc (plasma) Ceruloplasmin dec (serum) Copper inc (liver) Copper inc (urine) Copper dec (serum) Hemoglobine dec (blood) Protein inc (urine) Transaminases (ASAT/ALAT) inc (serum) |
| Symptoms | Kayser-Fleischer Ring abnormal movement anemia anorexia ascites ataxia basal ganglia, changes, lesions, calcifications (MRI, CT) behavior, abnormal or bizarre, confusion behavior, aggressive cataract clumsiness, coordination defect or unsteadiness Coagulopathy/Coagulation factors depression drooling dysarthria dystonia hemolysis hemolytic anemia hepatomegaly (large liver) hypoparathyreoidism irritability jaundice leukopenia liver failure liver involvement or dysfunction pain, abdominal Parkinsonism pseudobulbar palsy psychosis speech development, delayed, abnormal speech difficulties thrombopenia, thrombocytopenia tremor or twitching tubulopathy bleeding tendencies, hemorrhages cirrhosis or fibrosis of liver cognitive impairment corneal clouding corneal deposits dyskinesia dysphagia encephalopathy Fanconi syndrome heart involvement hemiparesis/hemiplegia/hemiparetic cerebral palsy MRI, brain, abnormalities [-] night blindness onset, adolescent onset, adulthood onset, childhood osteoporosis pancreatitis paresis progressive neurologic defect proteinuria rickets splenomegaly (large spleen) status epilepticus vomiting |