MATCH THE CORRECT ANSWER
From the list of options below, please select the most likely diagnosis for each of the following scenarios concerning patients who presented with biochemical disturbances. Each option may be used more than once.
A. Fanconi’s anaemia
B. Bartter’s syndrome
C. Distal renal tubular acidosis
D. Nephrogenic diabetes insipidus
E. Metabolic bone disease of prematurity
F. Vitamin D deficiency rickets
G. Primary hypoparathyroidism
H. Nephrotic syndrome
I. X-linked hypophosphataemic rickets
J. Pseudohypoparathyroidism
K. Pseudo-Bartter’s syndrome
L. Proximal renal tubular acidosis
1. A 12-month-old boy presents with faltering growth and swollen
wrists. Wrist X-rays show cupping and fraying of the metaphyseal
region. His blood test results are as follows:
• ALP raised
• Phosphate low
• Calcium normal
• PTH normal
• 25 -hydroxy vitamin D normal.
2. A 4-year-old girl presents with genu valgum (knock-knee) deformity. Her blood test results are as follows:
• ALP raised
• Phosphate low
• Calcium normal
• PTH raised
• 25 -hydroxy vitamin D low.
3. A 2-week-old boy with dysmorphic features presents with seizures and is found to have hypocalcaemia. His blood test results are as follows:
• ALP normal
• Phosphate raised
• Calcium low
• PTH low
• 25-hydroxy vitamin D normal.
4. An 18-month-old boy presents with faltering growth and vomiting. His blood and urine test results are as follows:
• Serum potassium 3.0 mmol/1
• Serum pH 7.2
• Serum bicarbonate 15 mmol/1
• Serum CO2 3.5 kPa
• Urine pH 5.0
5. A 5-year-old boy presents with loin pain. His blood and urine
test results are as follows:
• Serum potassium 3.0 mmol/1
• Serum pH 7.2
• Serum bicarbonate 15 mmol/1
• Serum CO2 3.5 kPa
• Urine pH 7.0.
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