Q#26
A 28-year-old woman is evaluated for a serum calcium level of 2.74 mmol/L obtained during a routine physical examination.
All other laboratory values are normal.
PTH level was subsequently checked and is 40 ng/L.
The patient is healthy and has no symptoms of polyuria, constipation, or fatigue.
Her mother and maternal grandfather have a history of hyperparathyroidism, and they both underwent parathyroidectomy but remained mildly hypercalcemic.
The patient had a recent renal ultrasound that showed no evidence of nephrolithiasis. Her diet is rich in dairy products, and she has no history of gastrointestinal illness.
Which of the following tests would be most likely to confirm the diagnosis?
1)25-hydroxyvitamin D
2)1,25-Dihydroxyvitamin D
3)Urine calcium/creatinine clearance ratio
4)Parathyroid hormone–related peptide[/quote]
3)Urine calcium/creatinine clearance ratio
I wonder about familial hypocalciuric hypercalcemia.[/quote]
In an asymptomatic patient with mild hypercalcemia and an inappropriately normal parathyroid hormone level, the main differential includes:
primary hyperparathyroidism versus benign familial hypocalciuric hypercalcemia.
It is diagnosed by a urinary calcium/creatinine clearance ratio <0.01 measured in a fasting morning urine spot collection.
Rare autosomal dominant disorder characterized by lifelong, mild asymptomatic hypercalcemia.
prevalence is about 1/16,000.
caused by an inactivating mutation of the calcium-sensing receptor.