wilson disease

WILSON DISEASE CAUSES, SYMPTOMS AND DIAGNOSIS

WILSON DISEASE CAUSES, SYMPTOMS AND DIAGNOSIS

 Wilson disease was discovered by  the British physician SAMUER ALEXANDER KINNNIER WILSON(1878-1937).Wilson disease is a genetic disorder (or) inborn disorder in which the accumulation copper in the liver, brain, cornea and other tissues in a progressive way. Wilson disease is caused by the mutations in ATP7B that result in abnormal copper metabolism and subsequent excess free copper is toxic. The Wilson disease include variable combinations of dysarthria, dystonia, tremor and parkinsonism. 

wilson disease

EPIDEMIOLOGY:-

1 case per 30,000 live births it is a rare conditions. But in a small village of mountains in island of Creto the disease observed and diagnosed in 1 in 5 births. Men and women are more  likely and equally affected to the disease. 

GENETICS:-

            Molecular analysis of the ATP7b gene is affected for patients and families has detected more than 200 district mutations. In the northern European descent the H1069Q mutations accounts for 40% of the disease allels. Where as in Asian populations , an A778L mutations with in the fourth transmembrane domain occurs in approximately 30% of affected individuals. 

wilson disease

PATHOPHYSIOLOGY:-

The copper pathway:-

                  As copper is a micronutrient and an essential cofactor for many enzymes cytochrome oxidase and superoxide dismutase. The diary  required basis of copper is of about 1-4mg.

  • The copper is metabolized and absorbed about 20% in enterocytes by metallothionein.
  • 30% of the copper is eliminated through the skin and 50% is unabsorbed and eliminated through stool.
  • Copper is then exported to the portal blood with the heep of proteins.
  • In the portal blood copper is carried by looser bound to albumin, amino acid, esp, transcuprein.

Thus the copper passes through liver (or) hepatocyte. The hepatocyte protects itself against copper toxicity by following mechanisms.

  • Controlling uptake of copper.
  • Chaperoning copper to various locations.
  • Binding free cytoplasmic copper.
  • Actively transporting copper ( Wilson disease protein ).

COPPER CHAPERONE PROTEINS:-

  • Hah 1
  • Lys 7
  • Lox 17

FOOD RICH IN COPPER:-

  • Liver, kidney, chocolate, nuts, dried beans, green chilies, mushroom, legumes, unprocessed meat, milk products, dried fish and shell fish.

Mutations in the ATP7b gene results in

            1.Retention of copper in the liver.

            2.Impaired incorporation of copper into ceruloplasmin.

This accumulation is then followed by hepatic and or neurological symptoms due to copper toxicity.

SYMPTOMS OF WILSON’S DISEASE:-

  • Fatigue, lack of appetite (or) abdominal pain.
  • A yellowing of the skin and the whites of the eye (Jaundice).
  • Golden-brown eye discoloration (Kayser-Fleischer rings).
  • Fluid buildup in the legs (or) abdomen.
  • Problems with speech, swallowing (or) physical co-ordination.
  • Uncontrolled movements or muscle stiffness.

yellow skin

COMPLICATIONS:-

Scarring of the liver (cirrhosis):-

                 As the liver cells perform more function to repair damage done by excess copper in the liver. It causes cirrhosis.

Acute liver failure:-

                 It can occur suddenly (or) it can develop slowly over years.

Persistent neurological problems:-

                  Tremors, involuntary muscle movements, speech difficulties.

Kidney problems:-

                   It can leads to the formation of kidney stones and abnormal number of amino acids excreted in the urine.

PHYSIOLOGICAL PROBLEMS:-

                  This might include personality changes, depression, irritability, bipolar disorder (or) psychosis.

BLOOD PROBLEMS:-

                  This causes destruction of red blood cells (hemolysis) leading to anemia and jaundice.

DIAGNOSIS OF WILSON’S DISAESE:-

Blood test and urine tests:-

  • Blood test is done for the charity the function of liver and charity the liver of a protein that binds copper in the blood.
  • Urine test is for  the amount of copper  exerted through urine daily a 24 hours period.

Eye Examination:-

         Eye exam is done for the yellowing of the eye-white (or) due to excess copper ions the formation of Kayser-Fleischer rings in the eye. This  indicates the confirmation of Wilson disease.

eye examination

BIOPSY OF LIVER TISSUE:-

               By urine a thin needle a small sample was drawn from the liver & test for laboratory purpose & detection of copper ions concentration in the tissue.

GENETIC TESTING:-

              A blood test can identify the genetic mutations that cause Wilson’s disease and genetic like knowing the mutations and identifications of the Wilson disease.

MEDICATIONS:-

  • Penicillamine (cuprimine, depen).
  • Trientine (syprine)
  • Zinc acetate (halzin)

SURGERY:- At the time of severe liver damage due to accumulations of the more copper ions then the doctors prefer the surgery for liver transplantation. 

NATURAL (OR) HOME REMEDIES:-

  • Avoiding the copper rich foods.
  • We might also check the water copper levels before we drink.
  • The multivitamin that contain copper should be avoided.
  • Consuming of less copper.

 

 Thanks for Reading……….. 

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