A 37-year-old female presents with recurrent renal stones. | Medibuddy
4th April 2024

A 37-year-old female presents with recurrent renal stones.

A 37-year-old female presents with recurrent renal stones. She has a past medical history of a prolactinoma and a family history of multiple endocrine neoplasia. Bloods reveal the following:

Calcium (2.1 – 2.6 mmol/L) 3.7
Phosphate (0.8-1.4 mmol/L) 0.6
Parathyroid hormone 34 (high)

She was treated for hypercalcaemia and further imaging demonstrated a mass in the pancreatic tail and a parathyroid adenoma. Which gene mutation is the likely cause of her condition?

Select the SINGLE most appropriate option from the list below. Select ONE option only.

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