Clinical and biochemical outcomes of cinacalcet treatment of familial hypocalciuric hypercalcemia: a case series.

[familial hypocalciuric hypercalcemia]

Familial hypocalciuric hypercalcemia is a rare benign autosomal-dominant genetic disease with high penetrance . In most cases , patients with familial hypocalciuric hypercalcemia experience unspecific physical discomfort or asymptomatic disease . These patients are typically characterized by mild to moderately increased blood ionized calcium and a normal to slightly elevated serum parathyroid hormone .Four female patients with familial hypocalciuric hypercalcemia with inactivating mutations in the CaSR gene were included in the treatment study . Three patients were related : two were siblings and one was the daughter of one of these . The ages of the related patients were 51 years , 57 years and 35 years . All three patients were carriers of the same mutation . The fourth patient , unrelated to the others , was 53 years old , and a carrier of a novel and previously unknown mutation leading to familial hypocalciuric hypercalcemia . All four patients were Caucasians of Danish nationality . Biochemically , all patients had elevated blood ionized calcium , serum parathyroid hormone , serum magnesium and total serum calcium , except one , whose serum parathyroid hormone was within the normal range prior to treatment . All patients were treated with cinacalcet in a dosage of 30 mg to 60 mg per day .Three months after the initiation of cinacalcet treatment , all our patients experiencing clinical signs of hypercalcemia had improved in self -reported well-being and in biochemical parameters . None of our patients suffered adverse events to cinacalcet treatment . Biochemical markers of calcium homeostasis were improved and remained stable during the observation period of 12 months (two patients ), 24 and 36 months , in both the symptomatic and the asymptomatic patients .

Diseases
Validation

Diseases presenting "elevated serum parathyroid hormone" symptom

familial hypocalciuric hypercalcemia

This symptom has already been validated