A 28-year-old woman undergoes routine laboratory testing and is found to have a serum calcium of 11.1 mg/dL on repeated occasions. She denies polyuria, bone pain, or nephrolithiasis. Vital signs are normal (BP 118/76, HR 72, RR 16, Temp 98.6°F). Serum parathyroid hormone is mildly elevated at 68 pg/mL (normal 15–65), while 24-hour urine calcium excretion is markedly low at 45 mg/day. Serum phosphate and alkaline phosphatase are normal. Which of the following is the most likely diagnosis?
- A)Familial hypocalciuric hypercalcemiaGABARITO
- B)Humoral hypercalcemia of malignancy
- C)Sarcoidosis
- D)Primary hyperparathyroidism due to adenoma
- E)Vitamin D intoxication
Explicação
Familial hypocalciuric hypercalcemia is caused by inactivating mutations in the calcium sensing receptor. Patients have mild lifelong hypercalcemia, low urinary calcium excretion, and normal or mildly elevated PTH. Distinguishing it from primary hyperparathyro... Ver explicação completa e trilha adaptativa →