Article

Familial Hypocalciuric Hypercalcemia: The Challenge of Diagnosis

2021-08-06

Abstract excerpt

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)<0.01[1,2]. FHH prevalence is estimated between 1:10 000 to 1:100 000[3,4]...

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Literature Corpus work: 1ced14df-7dcf-5e27-b5c8-39729f10da90
DOI: 10.21203/rs.3.rs-773127/v1

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