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Familial Hypocalciuric Hypercalcemia

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Diseases of the Parathyroid Glands

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Abstract

Previously referred to as “familial benign hypercalcemia (FBH),” familial hypocalciuric hypercalcemia (FHH) is a benign autosomal dominant disorder of mineral metabolism most often caused by a mutation in the gene encoding the extracellular calcium-sensing receptor (CaSR).

The importance of distinguishing between FHH and the much more common primary hyperparathyroidism (PHPT) has been recognized. In contrast to the benign clinical course of most FHH patients, patients with PHPT can develop a variety of complications, e.g., bone loss, impaired renal function, kidney stone, etc. In terms of management, for those with the complications of PHPT, successful surgical removal of hyperfunctioning parathyroid tissue cures the hypercalcemia and arrests or partially reverses renal and skeletal complications of the disease. On the other hand, in FHH, anything less than total parathyroidectomy is generally accompanied by persistence or prompt recurrence of hypercalcemia. In contrast, in almost all FHH cases, parathyroid surgery is contraindicated, both because of their benign clinical course and by the failure of the usual surgical treatment of PTH-dependent forms of hypercalcemia (e.g., PHPT) to restore normocalcemia in FHH.

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Authors and Affiliations

  1. Amgen Inc, Bone Therapeutic Area, 1 Amgen Center Drive, Mail Stop 38-B-A, Room 38 2D-1-2, Thousand Oaks, CA, 91320, USA

    Ogo I. Egbuna MD, MSc, FASN

  2. Division of Endocrinology, Diabetes and Hypertension, Brigham and Women’s Hospital, EBRC223A, 221 Longwood Ave., Boston, MA, 02186, USA

    Edward M. Brown MD

Authors
  1. Ogo I. Egbuna MD, MSc, FASN
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  2. Edward M. Brown MD
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Correspondence to Ogo I. Egbuna MD, MSc, FASN .

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Editors and Affiliations

  1. , DEPTS BIOMED ENG & ENDOCRIN-METABOL, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, 44195-5036, Ohio, USA

    Angelo A. Licata

  2. Section of Nephrology, University of Illinois at, Department of Medicine, Associates in Nephrology, SC, Chicago, 60402, Illinois, USA

    Edgar V. Lerma

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Egbuna, O.I., Brown, E.M. (2012). Familial Hypocalciuric Hypercalcemia. In: Licata, A., Lerma, E. (eds) Diseases of the Parathyroid Glands. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-5550-0_12

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  • DOI: https://doi.org/10.1007/978-1-4419-5550-0_12

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