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4th April 2024
A 44-year-old female under the care of the ENT surgeons for resection of a medullary thyroid tumour undergoes routine preoperative blood tests, which are shown below:
A 44-year-old female under the care of the ENT surgeons for resection of a medullary thyroid tumour undergoes routine preoperative blood tests, which are shown below:
| Result | Reference Range | |
|---|---|---|
| Na | 136 mmol/L | 135-145 mmol/L |
| K | 4.1 mmol/L | 3.5-5.0 mmol/l |
| eGFR | >90 ml/min/1.73m² | >90 ml/min/1.73m² |
| AdjCa | 2.79 mmol/L | 2.1-2.6 mmol/L |
| Phosphate | 0.73 mmol/L | 0.8-1.4 mmol/L |
| PTH | 5.1 pmol/L | 0.9-5.4 pmol/L |
On further questioning, she reveals her father developed painful kidney stones and subsequently required an operation on his neck. Given the suspected diagnosis, what is the most likely gene abnormality?
Select the SINGLE most appropriate option from the list below. Select ONE option only.
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