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Calcified Tissue International

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19.04.2020 | Case Reports

A Case of a Heterozygous Inactivating CASR Variant with Adult-Onset Symptomatic Hypercalcemia Requiring Extensive Surgery

verfasst von: Laurens Veldeman, Saskia Robbrecht, Jeroen Breckpot, Birgit Weynand, Brigitte Decallonne

Erschienen in: Calcified Tissue International | Ausgabe 1/2020

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Abstract

We describe the case of an adult female patient with symptomatic familial hypocalciuric hypercalcemia requiring a step-wise therapeutic approach and the eventual need for a total parathyroidectomy and thyroidectomy to cure symptoms. Genetic analysis demonstrated a heterozygous R227L inactivating CASR gene variant, previously only described in neonatal severe hyperparathyroidism. Post-operative histology showed diffuse hyperplasia of all four parathyroid glands along with the presence of intrathyroidal parathyroid tissue. With regard to clinical management this case suggests that familial hypocalciuric hypercalcemia should be classified as an atypical form of primary hyperparathyroidism rather than a distinct entity.

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Glaudo M, Letz S, Quinkler M, Bogner U, Elbelt U, Strasburger CJ, Schnabel D, Lankes E, Scheel S, Feldkamp J, Haag C, Schulze E, Frank-Raue K, Raue F, Mayr B, Schofl C (2016) Heterozygous inactivating CaSR mutations causing neonatal hyperparathyroidism: function, inheritance and phenotype. Eur J Endocrinol 175:421–431CrossRef

Marx SJ, Goltzman D (2019) Evolution of our understanding of the hyperparathyroid syndromes: a historical perspective. J Bone Miner Res 34:22–37CrossRef

Hendy GN, D'Souza-Li L, Yang B, Canaff L, Cole DE (2000) Mutations of the calcium-sensing receptor (CASR) in familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism, and autosomal dominant hypocalcemia. Hum Mutat 16:281–296CrossRef

Marx SJ (2018) Familial hypocalciuric hypercalcemia as an atypical form of primary hyperparathyroidism. J Bone Miner Res 33:27–31CrossRef

Hendy GN, Guarnieri V, Canaff L (2009) Calcium-sensing receptor and associated diseases. Prog Mol Biol Transl Sci 89:31–95CrossRef

Marx SJ, Attie MF, Stock JL, Spiegel AM, Levine MA (1981) Maximal urine-concentrating ability: familial hypocalciuric hypercalcemia versus typical primary hyperparathyroidism. J Clin Endocrinol Metab 52:736–740CrossRef

Rodrigues LS, Cau AC, Bussmann LZ, Bastida G, Brunetto OH, Correa PH, Martin RM (2011) New mutation in the CASR gene in a family with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). Arq Bras Endocrinol Metabol 55:67–71CrossRef

Pearce SH, Trump D, Wooding C, Besser GM, Chew SL, Grant DB, Heath DA, Hughes IA, Paterson CR, Whyte MP et al (1995) Calcium-sensing receptor mutations in familial benign hypercalcemia and neonatal hyperparathyroidism. J Clin Investig 96:2683–2692CrossRef

Wilhelm SM, Wang TS, Ruan DT, Lee JA, Asa SL, Duh QY, Doherty GM, Herrera MF, Pasieka JL, Perrier ND, Silverberg SJ, Solorzano CC, Sturgeon C, Tublin ME, Udelsman R, Carty SE (2016) The American association of endocrine surgeons guidelines for definitive management of primary hyperparathyroidism. JAMA Surg 151:959–968CrossRef

10.

Khan AA, Hanley DA, Rizzoli R, Bollerslev J, Young JE, Rejnmark L, Thakker R, D'Amour P, Paul T, Van Uum S, Shrayyef MZ, Goltzman D, Kaiser S, Cusano NE, Bouillon R, Mosekilde L, Kung AW, Rao SD, Bhadada SK, Clarke BL, Liu J, Duh Q, Lewiecki EM, Bandeira F, Eastell R, Marcocci C, Silverberg SJ, Udelsman R, Davison KS, Potts JT Jr, Brandi ML, Bilezikian JP (2017) Primary hyperparathyroidism: review and recommendations on evaluation, diagnosis, and management. Can Int Consens 28:1–19

11.

Thorgeirsson U, Costa J, Marx SJ (1981) The parathyroid glands in familial hypocalciuric hypercalcemia. Hum Pathol 12:229–237CrossRef

12.

Burski K, Torjussen B, Paulsen AQ, Boman H, Bollerslev J (2002) Parathyroid adenoma in a subject with familial hypocalciuric hypercalcemia: coincidence or causality? J Clin Endocrinol Metab 87:1015–1016CrossRef

13.

Gouveia S, Rodrigues D, Barros L, Ribeiro C, Albuquerque A, Costa G, Carvalheiro M (2012) Persistent primary hyperparathyroidism: an uncommon location for an ectopic gland: case report and review. Arq Bras Endocrinol Metabol 56:393–403CrossRef

14.

Chen M, Zhou WB, Xu JF, Sun K (2017) Primary hyperparathyroidism caused by mediastinal ectopic parathyroid adenoma. Hong Kong Med J 23:411–413CrossRef

15.

Phitayakorn R, McHenry CR (2006) Incidence and location of ectopic abnormal parathyroid glands. Am J Surg 191:418–423CrossRef

16.

Yabuta T, Miyauchi A, Inoue H, Yoshida H, Hirokawa M, Amino N (2009) A patient with primary hyperparathyroidism associated with familial hypocalciuric hypercalcemia induced by a novel germline CaSR gene mutation. Asian J Surg 32:118–122CrossRef

17.

Wystrychowski A, Pidasheva S, Canaff L, Chudek J, Kokot F, Wiecek A, Hendy GN (2005) Functional characterization of calcium-sensing receptor codon 227 mutations presenting as either familial (benign) hypocalciuric hypercalcemia or neonatal hyperparathyroidism. J Clin Endocrinol Metabol 90:864–870CrossRef

18.

Lee JY, Shoback DM (2018) Familial hypocalciuric hypercalcemia and related disorders. Best Pract Res Clin Endocrinol Metab 32:609–619CrossRef

19.

Chou YH, Pollak MR, Brandi ML, Toss G, Arnqvist H, Atkinson AB, Papapoulos SE, Marx S, Brown EM, Seidman JG et al (1995) Mutations in the human Ca(2+)-sensing-receptor gene that cause familial hypocalciuric hypercalcemia. Am J Hum Genet 56:1075–1079PubMedPubMedCentral

20.

Bollerslev J, Rejnmark L, Marcocci C, Shoback DM, Sitges-Serra A, van Biesen W, Dekkers OM (2015) European Society of E: European Society of Endocrinology Clinical Guideline: treatment of chronic hypoparathyroidism in adults. Eur J Endocrinol 173:G1–20CrossRef

21.

Bollerslev J, Schalin-Jantti C, Rejnmark L, Siggelkow H, Morreau H, Thakker R, Sitges-Serra A, Cetani F, Marcocci C (2019) Management of endocrine disease: unmet therapeutic, educational and scientific needs in parathyroid disorders. Eur J Endocrinol 181:P1–P19CrossRef

Titel: A Case of a Heterozygous Inactivating CASR Variant with Adult-Onset Symptomatic Hypercalcemia Requiring Extensive Surgery
verfasst von: Laurens Veldeman
Saskia Robbrecht
Jeroen Breckpot
Birgit Weynand
Brigitte Decallonne
Publikationsdatum: 19.04.2020
Verlag: Springer US
Erschienen in: Calcified Tissue International / Ausgabe 1/2020
Print ISSN: 0171-967X
Elektronische ISSN: 1432-0827
DOI: https://doi.org/10.1007/s00223-020-00693-4

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A Case of a Heterozygous Inactivating CASR Variant with Adult-Onset Symptomatic Hypercalcemia Requiring Extensive Surgery

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