All of the following statements about. Wilson’s disease are true, EXCEPT –
**Question:** All of the following statements about Wilson's disease are true, EXCEPT -
A. Wilson's disease is a rare genetic disorder caused by mutations in ATP7B gene, leading to copper accumulation in the liver, brain, and other organs.
B. The disease primarily affects children, with a mean age at onset of around 10 years.
C. Wilson's disease is characterized by the triad of copper-induced liver dysfunction, neurological symptoms, and psychiatric disturbances.
D. Wilson's disease is typically associated with the presence of Kayser-Fleischer rings in the cornea.
**Correct Answer:** B. The disease primarily affects children, with a mean age at onset of around 10 years.
**Core Concept:** Wilson's disease is a genetic disorder characterized by the accumulation of copper in various organs due to mutations in ATP7B gene. This leads to copper-induced liver dysfunction, neurological symptoms, and psychiatric disturbances. The disease primarily affects individuals in the pediatric age group, with a mean age of onset around 10 years.
**Why the Correct Answer is Right:** Wilson's disease is a genetic disorder caused by mutations in ATP7B gene. This results in copper accumulation in the liver, brain, and other organs, leading to the clinical symptoms observed in the disease. The disorder primarily affects individuals during childhood and adolescence, with a mean age at onset around 10 years.
**Why Each Wrong Option is Incorrect:**
A. Wilson's disease is indeed caused by mutations in ATP7B gene, but it can affect individuals of all age groups, not just children. Mutations in this gene lead to copper accumulation, which causes the disease's characteristic symptoms.
C. The triad of liver dysfunction, neurological symptoms, and psychiatric disturbances is a defining feature of Wilson's disease. However, stating that it primarily affects children and has a mean onset age of 10 years is incorrect. The disease can affect individuals from all age groups, not only children, and the symptoms are present due to copper accumulation in various organs.
D. Wilson's disease does involve the presence of Kayser-Fleischer rings in the cornea. These rings are copper accumulations in the cornea and are a characteristic finding in affected individuals. The statement regarding the disease affecting children and having a mean onset age of 10 years is incorrect. Wilson's disease affects individuals of all age groups, not just children, and the presence of Kayser-Fleischer rings demonstrates copper accumulation in the cornea, which is a hallmark of the disease.
**Clinical Pearls:** Wilson's disease is a genetic disorder caused by ATP7B gene mutations resulting in copper accumulation in multiple organs. The presence of Kayser-Fleischer rings in the cornea is a diagnostic criterion for Wilson's disease. Although the disease can affect individuals of all age groups, the statement that Wilson's disease primarily affects children and has a mean onset age of 10 years is inaccurate. Diagnosis of Wilson's disease involves identifying the characteristic Kayser-Fleischer rings in the cornea, but the disease's manifestations can occur in individuals of any age group,