Familial hypocalciuric hypercalcemia: grey zones of the differential diagnosis from primary hyperparathyroidism: a case report

Autori

  • Rosaria M. Ruggeri <p>Department of Clinical and Experimental Medicine, University of Messina, Messina, Italy;<br />Endocrine Unit, University Hospital G. Martino, Messina, Italy</p>
  • Alfredo Campennì Department of Biomedical and Dental Sciences, and Morpho-functional Images, University of Messina, Messina, Italy
  • Salvatore Cannavò Endocrine Unit, University Hospital G. Martino, Messina, Italy; Department of Human Pathology of Adulthood and Childhood DETEV, University of Messina, Messina, Italy.

DOI:

https://doi.org/10.13129/1828-6550/APMB.109.2.2021.CCS3

Parole chiave:

hypercalcemia, familial hypocalciuric hypercalcemia, primary hyperparathyroidism, calcium-sensing receptor (CASR), parathyroid

Abstract

Familial hypocalciuric hypercalcemia (FHH) is an autosomal dominant inherited disorder due to inactivating mutations in the calcium-sensing receptor (CaSR), less commonly in the G-protein subunit α11 (GNA11) or the adaptor-related protein complex 2, sigma 1 subunit (AP2S1) genes. It is characterized by mild to moderate hypercalcemia, hypocalciuria, and inappropriately normal or high PTH levels. The disorder is usually asymptomatic, and bone or renal involvement is rare. Adequate differential diagnosis between primary hyperparathyroidism and FHH is important to avoid unnecessary surgery. We report the case of a male patient with FHH showing biochemical heterogeneity to highlight the difficulties of differential diagnosis

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Pubblicato

2021-08-25

Fascicolo

V. 109 N. 2 (2021)

Sezione

CLINICAL CASE SEMINAR

Licenza

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