Hiperkalsemi Ayırıcı Tanısında Unutulmaması Gereken Bir Tanı; Ailesel Hipokalsiürik Hiperkalsemi
Synopsis
Familial hypocalciuric hypercalcemia (FHH) is a lifelong, usually benign, autosomal dominant disorder characterized by hypercalcemia. It is most commonly associated with inactivating mutations in the calcium-sensing receptor (CaSR) gene and typically presents with mild-to-moderate hypercalcemia, marked hypocalciuria, and normal or mildly elevated parathyroid hormone (PTH) levels. The major clinical significance of FHH lies in its potential to be misdiagnosed as primary hyperparathyroidism, which may result in unnecessary parathyroid surgery. The diagnostic evaluation should include confirmation of hypercalcemia, simultaneous measurement of PTH, and exclusion of other causes of hypercalcemia. FHH should be particularly considered in young, asymptomatic patients with similar biochemical findings among family members. Low 24-hour urinary calcium excretion and a calcium-to-creatinine clearance ratio of ≤0.020 support the diagnosis. Family screening and genetic testing for CaSR, GNA11, and AP2S1 mutations are valuable for diagnostic confirmation. FHH generally requires no treatment. Accurate diagnosis is essential to prevent unnecessary investigations, parathyroidectomy, and other invasive procedures.
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