Kayser-Fleischer rings (KF ring) is a classical feature of?

MNS 2024

Medical & Surgical Nursing

Easy

Appeared in: MNS 2024

Explanation

Wilson disease is an autosomal recessive disorder of copper metabolism caused by mutations in the ATP7B gene.
This genetic defect leads to the accumulation of copper in various tissues, most notably the liver, brain, and eyes.
The deposition of copper in the Descemet's membrane of the cornea creates a characteristic golden-brown ring known as the Kayser-Fleischer (KF) ring.
The KF ring is a pathognomonic sign of Wilson disease, visible on slit-lamp examination, and is present in almost all patients with neurological symptoms.

Option A: Hand-foot and mouth disease is a common viral illness, typically affecting young children. Its characteristic signs are a vesicular rash on the hands and feet and sores in the mouth.
Option B: Tay-Sachs disease is a lysosomal storage disorder. Its classic ocular finding is a 'cherry-red spot' on the macula of the retina, not a KF ring.
Option D: Niemann-Pick disease is a group of inherited metabolic disorders (sphingolipidosis). Similar to Tay-Sachs, it can also present with a 'cherry-red spot' on the macula in about 50% of cases, along with hepatosplenomegaly.

Clinical Relevance

Nursing practice connection: This is primarily an exam-oriented knowledge point with limited direct bedside application, so retain The question tests the knowledge of the classic clinical signs associated with specific genetic and metabolic disorders, particularly the ocular manifestations as background academic context rather than a clinical decision trigger.
Recognizing a Kayser-Fleischer ring is crucial for nurses as it is a key diagnostic clue for Wilson disease, a treatable condition. Early diagnosis and initiation of copper-chelating therapy can prevent irreversible liver and brain damage.
Patient education is a key nursing role. Patients with Wilson disease must understand the importance of lifelong medication adherence and dietary restrictions to manage their condition effectively.
What if? If a young patient presents with unexplained liver disease (like hepatitis or cirrhosis) or new-onset neurological symptoms (like tremors or dystonia), the nurse should consider Wilson disease as a differential diagnosis and ensure an ophthalmology consult for a slit-lamp exam is considered.

How to Approach the Question

This is a factual recall question that links a specific clinical sign to a disease.
First, identify the key term in the question stem: 'Kayser-Fleischer rings (KF ring)'.
Next, access your knowledge base of classic signs and symptoms of various diseases.
Systematically evaluate each option:
Does Hand-foot and mouth disease cause KF rings? No, it causes a rash.
Does Tay-Sachs disease cause KF rings? No, it causes a cherry-red spot.

Concept Tested & Keywords

Concept Tested: The question tests the knowledge of the classic clinical signs associated with specific genetic and metabolic disorders, particularly the ocular manifestations.
Stem keywords: Kayser-Fleischer rings, KF ring, classical feature
Lead-in keywords: is a classical feature of
Negative lead-in flag: false

Qm5OJQrQ70JLJpOPVkJLTp

E6 Medicine Harrison 22e Part 2 pp. 1243-1245, 1422-1424

E6 Medicine Davidson Principles Practice 24e p. 916-918