2024年7月2日 · Identify the clinical features of familial hypocalciuric hypercalcemia. Evaluate patients with presentations consistent with familial hypocalciuric hypercalcemia. Implement the recommended management for patients with familial hypocalciuric hypercalcemia.

Familial hypocalciuric hypercalcemia (FHH) is an inherited condition that can cause hypercalcemia, a serum calcium level typically above 10.2 mg/dL; although uncommon. [1] .

Familial hypocalciuric hypercalcemia (FHH) is a generally asymptomatic genetic disorder of phosphocalcic metabolism characterized by lifelong moderate hypercalcemia along with normo- or hypocalciuria and elevated plasma parathyroid hormone (PTH) concentration. Prevalence is …

Familial hypocalciuric hypercalcaemia (FHH) is caused by pathogenic variants in the calcium sensing receptor (CASR) gene or, more rarely, other genes such as GNA11 or AP2S1. It …

2024年6月25日 · This topic will briefly review our understanding of the function of the CaSR in the parathyroid glands and kidneys and then describe conditions caused by mutations in this gene, particularly FHH type 1 and autosomal dominant hypocalcemia (ADH) type 1 (table 1).

2021年10月29日 · Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant genetic disorder classically characterized by lifelong mild-to-moderate asymptomatic hypercalcemia with inappropriately normal to elevated serum parathyroid hormone (PTH) concentrations and hypocalciuria, best expressed by a urine calcium-to-creatinine clearance ratio (CCCR) < 0...

Familial hypocalciuric hypercalcaemia (FHH) is a rare, lifelong, benign condition. It is important to separate this condition from other hypercalcaemic states such as hypercalcaemia of malignancy and primary hyperparathyroidism (PHPT).

Familial hypocalciuric hypercalcemia (FHH) causes hypercalcemia by three genetic mechanisms: inactivating mutations in the calcium-sensing receptor, the G-protein subunit α₁₁, or adaptor-related protein complex 2, sigma 1 subunit. While hypercalcemia in other conditions causes significant …

2020年8月28日 · Familial hypocalciuric hypercalcemia (FHH) is a group of autosomal dominant genetic diseases with persistent hypercalcemia and hypocalciuria. The calcium-sensitive receptor (CaSR) plays an important role in calcium and phosphorus metabolism.

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