Between all the clinical symptoms of Wilson's disease described in the anterior lines, there are many other signs. In the following lines, I'll try to explain all of them:


Skeletal bone damage:
• osteoporosis, osteomalacia, condrocalcinose;
• osteoarthritis, joint hiperlaxitation.
Eye damage:
• Kayser-Fleischer ring this: a brown or green ring at the edge of corneal languages;
• cataract in the sun-flower bright and colorful, visible only with slit lamp;
• Exotropic strabismus, optical neural;
• Night blindness.

Other common clinical symptoms of Wilson's disease are greenish nail color, arthropathy, and anemia.
Liver damage is common initial manifestation in children. Approximately 40-50% of patients present liver disease, psychiatric and neurological symptoms and signs.
-Diagnosis of Wilson's disease:
Laboratory studies in the diagnosis of Wilson's disease:
• Low level of serum copper (normal 80-168 mcg / dl);
• Low level of serum ceruloplasmin <20mg/dL (normal 20-60 mcg / dl);
• ceruloplasmin levels may be normal in women who have oral contraceptives and during pregnancy, can be dropped in aceruloplasmin, multiple sclerosis, Huntington's disease;
• increased urinary copper levels> 100mcg/24 hours (normal hours 10-80mcg/24);
• hypercalciuria and Fanconi syndrome with tubular acidosis secondary and / or to impaired renal aminoaciduria ;
• hyperparathyroidism;
• hemolytic anemia with negative Coombs test;
• abnormal transaminase levels.

-Imaging studies in diagnosing Wilson's disease:



-Radiology or absorptiometry (DEXA) indicates osteoporoses

-Computed tomography brain shows cerebral atrophy and hipoatenuation of putamen.

-MRI shows brain copper accumulation in the basal ganglia, thalamus, cerebellar nucleus, needle and white matter, with cortical atrophy, enlargement of ventricles.

-Echography transcranial highlights hiperecogenitation of lenticular nucleus and asymptomatic patients are more sensitive than MRI.

Other procedures used are Tc99 scan and NMR spectroscopy:
-Liver biopsy shows liver copper deposits increased by spectroscopic measurements, marking with histochemical rhodanina.
-Genetic analysis of ATP7B gene identification.
-Ophthalmic examination at the slit lamp for cataract evident in flower sun and Kayser-Fleisher ring.
-Histopathology shows brain tissue: Hollow degeneration, gliosis, copper deposits in the basal ganglia, Opalski cells, neuronal loss, liver tissue: diffuse accumulation of copper in the cytoplasm, macro and microsteatoza, glycogen nuclei, periportal inflammation, mononuclear infiltrates, lobular necrosis fibrosis and Mallory bodies in the deck. Installs late cirrhosis with regenerative nodules of different sizes.

Wilson disease treatment:
Drug treatment of Wilson's disease is based on metal chelating agents. D-penicillamine binds copper and form soluble complexes which are excreted in urine. This may cause reversible neurological signs, Kayser-Fleischer ring and cataract. Improve psychiatric symptoms, aminoaciduria, peptiduria and liver disease.



Adverse effects of D-penicillamine are allergic reactions, pruritus, headache, nausea and impaired lymphatic. Sometimes, hardware failure occurs. In these cases, treatment will be restarted with a low dose which will gradually higher thereafter.

Other side effects include: pemphigus, lipoid syndrome, bone marrow inhibition, delayed wound healing and teratogenicity. For pregnant women are contraindicated because of teratogenic effects for penicillamine-congenital malformations.

Metalothionine zinc acetate induces synthesis of intestinal cells, a substance which has a high affinity for copper and prevents its absorption. Copper is excreted in the stool with intestinal cells degenerate. Zinc acetate may be given pregnant.

Trientina binds copper and increases its urinary excretion.