Abstract

Wilson's disease is an autosomal resistive genetic copper metabolism disorder that damages the liver, nervous system, eyes, kidneys and other organs due to a mutation in the ATP7B gene encoding the P-type copper ATF-aza Zula. Its diagnosis is made by clinical signs, laboratory analyzes and molecular genetic testing. Clinical symptoms occur due to the deposition of copper in various tissues. According to his clinic, it is similar to many diseases, which are often overlooked because they are rare. Its treatment is the elimination of copper-rich foods from the menu,the use of copper chelators and liver transplantation

Cover Letter

Introduction
Wilson's disease or hepatolenticular degeneration is a rare genetic defect of copper exchange, first found by Samuel Alexander Kinnier Wilson in 1912. The incidence of the disease is about 1/5, 000-30, 000.Carriers of mutations associated with Wilson's disease are seen in about 1/90 to 1/180 of the population.The disease is mainly detected between the ages of 3-55, but it can be seen at any age. In 1993, this disease was found to be due to mutations in the ATP13B gene on chromosome 7. This P-type Atfase is involved in copper Trasport, important in copper export of hepatocytes.For this reason, copper cannot be excreted from the hepatocyte and causes hepatic steatosis, chronic hepatitis, cirrhosis in the liver. Copper assemblies are deposited mainly in the basal nuclei, also in the nervous system, after first damaging the liver.Therefore,it manifests itself in various motor problems, changes in speech and the mental sphere.In the eye, it settles on the cornea, forming a Kayser - Fleisher ring.

Clinical Experimental case.

The patient born in 1999 applied to our clinic with headaches, vocal and motor tics.In the patient's medical history, he notes that he was the second child in the family and was born with asphyxia, the birth of which was severe. He says he has had such complaints since 2009.In his family history ,he states that his mother and sister had liver problems, were diagnosed with Wilson's disease, and therefore died. On examination, the diseased sclera are subicteric, the color of the skin and mucous membranes is ordinary. Heart tones are deafened. Arterial pressure 110/70. Its pulse is 75 accents per minute.On palpation of the abdomen, the abdomen is soft the liver spleen is not paled, it feels discamfort under the right rib.During the neurological examination, the convergence weakened, the tendon reflexes weakened-the knee reflex descended.There are no pathological reflexes.In the case of Romberg, it is stable.Nasal finger test is normal.On the face, muscle contractions of the shoulder in the neck and involuntary vocal tics are noted. He is emotionally labile,nervous.

FULL ABDOMINAL ULTRASOUND
Liver right Share Size 110x85 mm N-up to 150 mm, left share 65x68 mm n-up to 100 mm. Edges smooth, exostructure homogender. Gall bladder size 49x20mm N(40-100 x 15-45mm)shape pear-shaped,wall thickness increased concretion and no sediment. Spleen length 101 mm (N 80-120) width 60 mm (n 50-70).Its exostructure is homogeneous. Dimensions of the kidneys: right 117x37 mm left 106x46 mm N(90-120 mm) The Edge is smooth, the bowl-basin system is not expanded and there is no concretion.

LABORATORY ANALYSIS
WBC4.67, RBC 4.4, HGB 13.3, HCT 39.6 (N 40-52) PLT 195 ECT 5
ALT 33 , AST 42 GGT N Bilirubin (Total) 3.47 mg/dL N( 0.2-1.3 mg/dL), irregular bilirubin 2.96 mg/dL N( <0.9 mg/dL), flat bilirubin 0.51 mg / dL
Albumin n, creatinine n, glucose n Ceruloplasmin 0.16 n(0.2-0.6) Copper 39 µg/dL N(70-150) PT n, APTT N, INR 1.22 HBsAg negative, Anti HCV negative cranial MRI examination. The morphology of the Cerebral Hemispheres is natural,there is no pathological signal.The ventricles are of normal width.The structure of the basal nuclei and thalamus is natural.Pathology in the mesencephalon,Pons,cerebellum and oblong brain is not detected.An increase in MRI T1 and T2 hyperintense signaling in the Calvary Bones is noted. Ophthalmological examination myopia

GENETIC MOLECULAR TEST

P in the ATP7B gene.Polymorphism k832r.Heterozygous form was found in Wilson's disease.

Discussion
In Wilson's disease, the two main fuanctions of the damaged p-type copper ATF-aza transporter in the hepatocyte are to form enzymatically active ceruloplasmin from aposeruloplasmin and excrete copper into the bile ducts.Therefore, copper is deposited in hepatocytes unable to be excreted with bile.The accumulated copper causes various changes in the liver,from steatosis to cirrhosis, deposited in the basal nuclei and other centers in the brain, from headaches to extrapyramidal problems, from mild depression to antisocial behavior disorder, from deposition in the cornea in the eye to Kayser Fleisher ring, Fanconi syndrome in the kidneys, Kumps in the blood can cause negative hemolytic anemia, joint muscle probes, etc.causes. Problems with the liver such as hepatomegaly, persistent high plasma aminotransferase levels, and fatty liver can manifest themselves symptomatically or asymptomatically.Clinical symptoms may be nonspecific symptoms such as weakness,nausea, anorexia, or abdominal pain.Sometimes patients manifest themselves in a similar way to acute hepatitis with anorexia,nausea,jaundice,elevated plasma aminotransferase levels and abnormal coagulogram results, so differentiation should be performed with it. In some patients, jaundice occurs against the background of hemolytic anemia.The disease can also manifest as decompensated chronic liver disease - hepatosplenomegaly, ascites, decreased plasma albumin levels, and persistent abnormal coagulogram results. In addition to them, it can also be manifested by acute liver failure - serious changes in the coagulation system and encephalopathy.In acute Wilsonian liver failure, aminotransferases can be seen to rise (mostly no more than 1500), AST/ALT risk greater than 2.2, and alkaline phosphatase/ total bilirubin ratio less than 4.Changes in the liver in children and young people, both histologically and laboratory- with an increase in IgG in the blood,positive maternal and ASM, it is able to resemble autoimmune hepatitis, so differentiation should be carried out with it.The ill-fated disease already results in cirrhosis. Neurological and psychiatric problems are found approximately in 40-50% of patients. Initially, motor problems such as cerebellum and extrapyramidal problems occur.Cases such as pseudoparkinsonism, pseudosclerosis ,dyskinesia can be accompanied by appropriate lesions on the MRI, as well as a complete normal MRI image.Extrapyramide symptoms include facial muscle tightening, tics, dysarthria, dysphagia, contractures in the limbs and jaw, etc. refers to. Signs of pseudoparkinsonism include bradykinesia, cogwheel phenomenon, cognitive problems, and organic affective problems. Basal ganglia are due to the deposition of copper on the corticospinal and corticobulbar pathways.The psychiatric presentation of the disease is organic dementia, bipolar disorder,psychosis, antisocial and aggressive behavioral disorder, and in children and adolescents, changes in basic socialization skills and school performance. In Wilson patients with neuropsychiatric presentation, Kayser Fleisher's ring is found in 90-95% of cases. In its diagnostics, the Leipzig criterion is used. 4 points or more – Wilson is diagnosed. 3 points-Wilson's disease is possible, but additional tests are needed. 2 points and less - Wilson's disease is not consideredw. Its treatment varies according to the patient's clinic.Treatment consists of removing copper-rich foods from the diet,medikomentosis treatment and liver transplantation. Medikomentosis treatment is carried out using zinc and oral copper chelators - d penicillamine and trientine. The effect of both chelating drugs is based on increased excretion of copper with urine. D-penicillamine is the drug of primary choice, in adults at the beginning of treatment-500 mg 2-3 times a day,in children-20 mg/kg/day, divided into 2-3 doses ; in continuation of treatment, 250 mg is used 3-4 times a day.As it increases the need for vitamin B6, 25mg of pyridoxine per day is added to the treatment. The use of D-penicillamine has some side effects. In the first days of taking the drug, an increase in neurological complaints can be observed.The skin contains various elements-pemphigus,elastosis perforans serpiginose, etc. it may turn out.It has side effects such as myelosuppression, drug-induced red ringworm (SLE), nephrotic syndrome, immunosuppression. Trientin is used if there is an obstacle to the reception of D-penicillamine from any causal - side effects or individual sensitivity,its side effects are less. Trientin is taken at the beginning of treatment 500 mg 2-3 times a day, in the continuation-0.75-1.2 g/day, divided into 2-3 doses. The use of zinc is based on the fact that it interferes with the absorption of copper from the gastrointestinal tract and the excretion of copper by deposition in the feces. It can be taken 3 times a day for 50 mg. A change in diet is also an important part of treatment.Foods rich in copper – liver , kidneys of animals ; sea creatures - oyster, crab ; legumes ; mushrooms ; chocolate; keshyu kernel, etc. refers to. They need to be excluded from the diet or seriously reduced. In severe cases ( acute liver failure ) or when drug therapy is not effective, liver transplantation is used.

Figures

Keywords

• Wilson's disease

References

Article Info:

Publication history

Published: 25.Feb.2025

DOI: https://doi.org/10.28942/ajim.v2i1y2025.26

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© 2022-2025 Azerbaijan İnternal Medicine Society. Published by "Uptodate In Medicine" health sciences publishing. All rights reserved.

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