Clinical Profile and Out Come of Children With Wilson's Disease

Assiut University

Status: Not yet enrolling

Conditions: Clinical Outcome in WILSON Disease

Treatments: Diagnostic Test: 24 hour copper in urine and liver function test

Study type: Observational

Funder types: Other

Identifiers

NCT05792319

COC of WILSON disease

Details and patient eligibility

About

Clinical profile and out come of Children with Wilson's disease :A single tertiary center study

Full description

Wilson disease (WD) is an autosomal-recessive disorder of copper metabolism caused by mutations in the ATP7B gene . It presents in childhood, adolescence or adulthood with a wide range of clinical manifestations. The disease prevalence has previously been estimated as 1 in 30,000 , but some recent analyses have suggested a genetic prevalence of 1 in 7,000 . Copper is absorbed from the stomach and duodenum, taken up by the liver, and secreted by the liver into the systemic circulation bound to ceruloplasmin ATP7B transports copper through the trans-Golgi network in hepatocytes before it is incorporated into apoceruloplasmin which is secreted as holoceruloplasmin.

ATP7B is also essential for biliary excretion of copper when cytoplasmic levels are high. Dysfunction of ATP7B therefore leads to accumulation of copper in the liver giving rise to cellular damage and disease, and the release of nonceruloplasmin bound copper into the systemic circulation. Copper also accumulates and is associated with cellular damage and disease in other organs mostly in the brain Typical presentation of WD is in adolescence to early adulthood, but it may occur at any age . Clinical presentation can vary widely in terms of type and severity, but the key features are various degrees of liver disease,

Enrollment: 20 estimated patients

Sex: All

Ages: 1 to 18 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• All patients aged 1-18 years
• fulfill the criteria for diagnosis of Wilson's disease according to Wilson's score

Exclusion criteria

1. persistent neonatal jaundice.

2. Patients presented with Acute and chronic liver disease rather than Wilson's e.g

   1. Autoimmune hepatitis
   2. Hepatitis C virus ,
   3. Hepatitis B virus infection ,(d)Hepatic focal lesions and(e) Metabolic liver disease e.g Gauchier ,glycogen storage disease and Niemman pick .