Nokea
Which of the following conditions results primarily from mutation in the gene encoding Vitamin D receptor?
- A. Vitamin D dependent rickets type 1
- B. Vitamin D dependent rickets type 2
- C. X-linked hypophosphatemic rickets
- D. Autosomal dominant hypophosphatemic rickets
Correct Answer: B
Rationale: Vitamin D dependent rickets type 2 is caused by mutations in the vitamin D receptor gene, leading to resistance to vitamin D.
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What is the recommended hourly maintenance fluid rate (water) for a 20 kg child?
- A. 50 ml/hour
- B. 60 ml/hour
- C. 80 ml/hour
- D. 100 ml/hour
Correct Answer: B
Rationale: The recommended hourly maintenance fluid rate for a 20 kg child is 60 ml/hour, calculated using the formula: 100 ml/kg for the first 10 kg + 50 ml/kg for the next 10 kg.
Right to left shunts include:
- A. Fallot's tetralogy
- B. Tricuspid atresia
- C. Eisenmenger complex
- D. Ductus arteriosus in the fetus
Correct Answer: A
Rationale: Fallot's tetralogy is a congenital heart defect that includes a right-to-left shunt, allowing deoxygenated blood to bypass the lungs.
Common presenting features of myotonic dystrophy are:
- A. Floppy infant
- B. Corneal opacities
- C. Frontal baldness
- D. Macro-orchidism
Correct Answer: D
Rationale: Macro-orchidism: Myotonic dystrophy is characterized by muscle weakness and myotonia. Macro-orchidism (enlarged testes) is a distinctive feature, especially in male patients.
A child can be diagnosed as having Kawasaki disease if he has:
- A. Fever > 3 days' duration, > 38°C
- B. Purulent conjunctivitis
- C. Thrombocytosis
- D. Polymorphous rash
Correct Answer: A
Rationale: Kawasaki disease is characterized by a fever lasting more than 3 days, which is a primary diagnostic criterion.
Methaemoglobinaemia may occur as a result of ingestion or exposure to:
- A. Paraquat
- B. Methylene blue
- C. Potassium permanganate
- D. Nitrates
Correct Answer: D
Rationale: Nitrates, when ingested, can lead to methaemoglobinaemia by converting hemoglobin to methemoglobin, impairing oxygen delivery.