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

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...

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Autores principales:	Rosaria M. Ruggeri, Alfredo Campennì, Salvatore Cannavò
Formato:	article
Lenguaje:	EN
Publicado:	Accademia Peloritana dei Pericolanti 2021
Materias:	hypercalcemia familial hypocalciuric hypercalcemia primary hyperparathyroidism calcium-sensing receptor (casr) parathyroid Medicine R Biology (General) QH301-705.5
Acceso en línea:	https://doaj.org/article/dfbb0ea72b49440c8655e2c0d9054986
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spelling	oai:doaj.org-article:dfbb0ea72b49440c8655e2c0d90549862021-11-18T08:51:22ZFamilial hypocalciuric hypercalcemia: grey zones of the differential diagnosis from primary hyperparathyroidism: a case report1828-655010.13129/1828-6550/APMB.109.2.2021.CCS3https://doaj.org/article/dfbb0ea72b49440c8655e2c0d90549862021-08-01T00:00:00Zhttps://cab.unime.it/journals/index.php/APMB/article/view/3205https://doaj.org/toc/1828-6550Familial 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 diagnosisRosaria M. RuggeriAlfredo CampennìSalvatore CannavòAccademia Peloritana dei Pericolantiarticlehypercalcemiafamilial hypocalciuric hypercalcemiaprimary hyperparathyroidismcalcium-sensing receptor (casr)parathyroidMedicineRBiology (General)QH301-705.5ENAtti della Accademia Peloritana dei Pericolanti - Classe di Scienze Medico-Biologiche, Vol 109, Iss 2, Pp 1-6 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	hypercalcemia familial hypocalciuric hypercalcemia primary hyperparathyroidism calcium-sensing receptor (casr) parathyroid Medicine R Biology (General) QH301-705.5
spellingShingle	hypercalcemia familial hypocalciuric hypercalcemia primary hyperparathyroidism calcium-sensing receptor (casr) parathyroid Medicine R Biology (General) QH301-705.5 Rosaria M. Ruggeri Alfredo Campennì Salvatore Cannavò Familial hypocalciuric hypercalcemia: grey zones of the differential diagnosis from primary hyperparathyroidism: a case report
description	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
format	article
author	Rosaria M. Ruggeri Alfredo Campennì Salvatore Cannavò
author_facet	Rosaria M. Ruggeri Alfredo Campennì Salvatore Cannavò
author_sort	Rosaria M. Ruggeri
title	Familial hypocalciuric hypercalcemia: grey zones of the differential diagnosis from primary hyperparathyroidism: a case report
title_short	Familial hypocalciuric hypercalcemia: grey zones of the differential diagnosis from primary hyperparathyroidism: a case report
title_full	Familial hypocalciuric hypercalcemia: grey zones of the differential diagnosis from primary hyperparathyroidism: a case report
title_fullStr	Familial hypocalciuric hypercalcemia: grey zones of the differential diagnosis from primary hyperparathyroidism: a case report
title_full_unstemmed	Familial hypocalciuric hypercalcemia: grey zones of the differential diagnosis from primary hyperparathyroidism: a case report
title_sort	familial hypocalciuric hypercalcemia: grey zones of the differential diagnosis from primary hyperparathyroidism: a case report
publisher	Accademia Peloritana dei Pericolanti
publishDate	2021
url	https://doaj.org/article/dfbb0ea72b49440c8655e2c0d9054986
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Familial hypocalciuric hypercalcemia: grey zones of the differential diagnosis from primary hyperparathyroidism: a case report

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