Here are some scenario-based multiple-choice questions about Homocystinuria:
A 6-year-old child is brought to the doctor's office by their parents due to developmental delays, vision problems, and skeletal abnormalities. After performing some diagnostic tests, the doctor suspects Homocystinuria. Which of the following tests would confirm the diagnosis?
a. Blood test to measure homocysteine levels
b. Urine test to measure cystathionine levels
c. Genetic testing to look for mutations in the CBS gene
d. All of the above
Answer: d. All of the above
A 12-year-old girl with Homocystinuria has been prescribed a low-protein diet, vitamin B6 supplements, and betaine supplements. Which of the following is the purpose of betaine supplements in the treatment of Homocystinuria?
a. To lower homocysteine levels in the blood
b. To improve liver function
c. To promote bone growth
d. To prevent eye complications
Answer: a. To lower homocysteine levels in the blood
A 16-year-old boy with Homocystinuria is experiencing thromboembolic events despite being on treatment with pyridoxine, folic acid, and vitamin B12 supplements. What additional treatment option should be considered?
a. Betaine supplements
b. Cysteine supplements
c. Low-dose aspirin therapy
d. High-dose vitamin C supplements
Answer: c. Low-dose aspirin therapy
A 30-year-old woman with Homocystinuria is planning to have a baby. What advice should be given to her regarding pregnancy?
a. She should not attempt to become pregnant due to the risk of passing on the genetic mutation to her offspring
b. She should undergo genetic counseling with her partner to determine the risk of passing on the genetic mutation
c. She should stop all medication before attempting to become pregnant
d. She should increase her protein intake during pregnancy to promote fetal growth
Answer: b. She should undergo genetic counseling with her partner to determine the risk of passing on the genetic mutation.
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