Abstract

Short Review

An Overview of Familial Hypocalciuric Hypercalcemia

Can Huzmeli*

Published: 26 August, 2024 | Volume 8 - Issue 2 | Pages: 114-117

Familial hypocalciuric hypercalcemia (FHH) is one of the rare reasons for hypercalcemia. FHH is an autosomal dominant disease that is inheritable. The most common calcium sensitive receptors (CaSR) develop because of the inactivation of. In addition, they also develop due to the function loss of AP2S1 and GNA11. The FHH sickness is characterized by hypercalcemia, hypocalciuria, the regular or increased level of the parathyroid hormone, and normal renal function. The symptoms of hypercalcemia are usually not observed. It is often diagnosed by calculating the calcium/creatine clearance ratio of a 24-hour urine sample, and then genetically looking at it. FHH is usually a benign disorder, and when symptomatic and rarely complications develop, calcimimetics are used or parathyroidectomy can be performed. In conclusion, FHH is a benign and genetically transmitted, moderate cause of hypercalcemia. It is rare and usually asymptomatic.

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Keywords:

Familial hypocalciuric hypercalcemia; Calcium-sensitive receptors; Calsimimetics

References

  1. Peacock M. Calcium metabolism in health and disease. Clin J Am Soc Nephrol 2010;5 Suppl 1:S23-S30. Available from: https://doi.org/10.2215/cjn.05910809
  2. Hoenderop JGJ, Bindels RJM. Epithelial Ca2+ and Mg2+ channels in health and disease. J Am Soc Nephrol 2005;16:15-26. Available from: https://doi.org/10.1681/asn.2004070523
  3. Çolak N. Kalsiyum ve fosfor metabolizması ile ilgili acil durumlar. Dokuzuncu Ulusal İç Hastalıkları Kongresi. 2007;33-5.
  4. Carroll MF, Schade DS. A practical approach to hypercalcemia. Am Fam Physician. 2003;67(9):1959-66. PMID: 12751658. Available from: https://pubmed.ncbi.nlm.nih.gov/12751658/
  5. Frikha F, Snoussi M, Loukil H, Bahloul Z. Chondrocalcinosis revealing familial hypocalciuric hypercalcemia: about one observation. Pan Afr Med J. 2015;20:58. Available from: https://doi.org/10.11604/pamj.2015.20.58.5828
  6. Vargas-Poussou R, Mansour-Hendili L, Baron S, Bertocchio JP, Travers C, Simian C, Houillier P. "Familial hypocalciuric hypercalcemia types 1 and 3 and primary hyperparathyroidism: similarities and differences." The Journal of Clinical Endocrinology & Metabolism5. 2016: 2185-2195. Available from: https://doi.org/10.1210/jc.2015-3442
  7. Hendy Geoffrey N, and David EC Cole. "Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3." The Journal of Clinical Endocrinology & Metabolism12. 2013:4666-4669. Available from: https://doi.org/10.1210/jc.2013-3616
  8. Jones AR, Hare MJ, Brown J, Yang J, Meyer C, Milat F, Allan CA. "Familial hypocalciuric hypercalcemia in pregnancy: diagnostic pitfalls." Journal of Bone and Mineral Research Plus6. 2020: e10362. Available from: https://doi.org/10.1002/jbm4.10362
  9. Lee Janet Y, and Dolores M. Shoback. "Familial hypocalciuric hypercalcemia and related disorders." Best practice & research Clinical endocrinology & metabolism5. 2018: 609-619. Available from: https://doi.org/10.1016/j.beem.2018.05.004
  10. Taïeb D, Lasbleiz A, Paladino NC, Romanet P, Castinetti F, Cuny T, Sebag F. "Familial Hypocalciuric Hypercalcemia: The Challenge of Diagnosis." 2021. Available from: https://doi.org/10.21203/rs.3.rs-773127/v1
  11. Asla Q, Sardà H, Seguí N, Martínez de Pinillos G, Mazarico-Altisent I, Capel I, Aulinas A. "Clinical and outcome comparison of genetically positive vs. negative patients in a large cohort of suspected familial hypocalciuric hypercalcemia." Endocrine3. 2024: 747-756. Available from: https://doi.org/10.1007/s12020-023-03560-y
  12. Hinnie J, Bell E, McKillop E, Gallacher S. "The prevalence of familial hypocalciuric hypercalcemia." Calcified tissue international4. 2001. Available from: https://doi.org/10.1007/s002230001201
  13. Besiroglu H, Sahin S, Otunctemur A, Ozbek E. "Calcium-sensing receptor gene polymorphisms in patients with calcium urolithiasis: a systematic review." Renal Failure8. 2014: 1187-1192. Available from: https://doi.org/10.3109/0886022X.2014.937673
  14. Afzal Muhammad and Pranay Kathuria. "Familial hypocalciuric hypercalcemia." StatPearls [Internet]. StatPearls Publishing, 2023.
  15. Sethi BK, Nagesh VS, Kelwade J, Parekh H, Dukle V. "Utility of cinacalcet in familial hypocalciuric hypercalcemia." Indian Journal of Endocrinology and Metabolism2. 2017: 362-363.Available from: https://doi.org/10.4103/2230-8210.202034
  16. Christensen SE, Nissen PH, Vestergaard P, Heickendorff L, Rejnmark L, Brixen K, Mosekilde L. "Plasma 25-hydroxyvitamin D, 1, 25-dihydroxyvitamin D, and parathyroid hormone in familial hypocalciuric hypercalcemia and primary hyperparathyroidism." European journal of endocrinology6. 2008: 719-727. Available from: https://doi.org/10.1530/EJE-08-0440
  17. Riccardi Daniela and Edward M. Brown. "Physiology and pathophysiology of the calcium-sensing receptor in the kidney." American Journal of Physiology-Renal Physiology3. 2010: F485-F499. Available from: https://doi.org/10.1152/ajprenal.00608.2009
  18. Vahe C, Benomar K, Espiard S, Coppin L, Jannin A, Odou MF, Vantyghem MC. "Diseases associated with calcium-sensing receptor." Orphanet journal of rare diseases 2017:1-9. Available from: https://doi.org/10.1186/s13023-017-0570-z
  19. Mrgan M, Nielsen S, Brixen K. Familial hypocalciuric hypercalcemia and calcium sensing receptor. Acta Clin Croat 2014; 53:220-5. Available from: https://hrcak.srce.hr/127693
  20. Zahedi M, Hizomi Arani R, Rafati M, Amouzegar A, Hadaegh F. "Persistent hypercalcemia with similar familial Hypocalciuric hypercalcemia features: a case report and literature review." BMC Endocrine Disorders 2021: 1-5.Available from: https://doi.org/10.1186/s12902-021-00881-9
  21. Christensen SENissen PHVestergaard PMosekilde L. Familial hypocalciuric hypercalcaemia: a review. Curr Opin Endocrinol Diabetes Obes.2011 Dec;18(6):359-70. Available from: https://doi.org/10.1097/med.0b013e32834c3c7c
  22. Ghaznavi SA, NMA Saad and LE Donovan. "The biochemical profile of familial hypocalciuric hypercalcemia and primary hyperparathyroidism during pregnancy and lactation: two case reports and review of the literature." Case reports in endocrinology1. 2016: 2725486. Available from: https://doi.org/10.1155/2016/2725486
  23. Alix Lilian and Pascal Guggenbuhl. "Familial hypocalciuric hypercalcemia associated with crystal deposition disease." Joint Bone Spine1. 2015: 60-62. Available from: https://doi.org/10.1016/j.jbspin.2014.08.007
  24. Marstrand SD, Tofteng CL, Jarløv A, Borgwardt L, Schwarz P. "Concomitant familial hypocalciuric hypercalcemia and single parathyroid adenoma: a case report." Journal of Medical Case Reports 2021: 1-6. Available from: https://doi.org/10.1186/s13256-021-03051-6
  25. Davies M, Klimiuk PS, Adams PH, Lumb GA, Large DM, Anderson DC. Familial hypocalciuric hypercalcaemia and acute pancreatitis." Br Med J (Clin Res Ed)6269. 1981: 1023-1025. Available from: doi: https://doi.org/10.1136/bmj.282.6269.1023
  26. Marx SJ. Familial hypocalciuric hypercalcemia. N Engl J Med 1980; 303:810-1. Available from: https://doi.org/10.1056/nejm198010023031409
  27. Marx Stephen J. "Calcimimetic use in familial hypocalciuric hypercalcemia—a perspective in endocrinology." The Journal of Clinical Endocrinology & Metabolism11. 2017: 3933-3936. Available from: https://doi.org/10.1210/jc.2017-01606
  28. Cuny T, Romanet P, Goldsworthy M, Guérin C, Wilkin M, Roche P, Taïeb D. "Cinacalcet reverses short QT interval in familial hypocalciuric hypercalcemia type 1." The Journal of Clinical Endocrinology & Metabolism2. 2024:549-556. Available from: https://doi.org/10.1210/clinem/dgad494
  29. Anthonypillai J, Sinha SK, Mamkin A, Ten S, Dong Q, Bhangoo A. "Experience with cinacalcet in familial hypocalciuric hypercalcemia resulting from inactivating mutations in calcium sensing receptor (CaSR)." Endocrinol Metab Int J2 (2018): 137-140. DOI: 10.15406/emij.2018.06.00167
  30. Koca Serkan Bilge. "Cinacalcet therapy in a child with novel homozygous CASR p. Glu353Lys mutation causing familial hypocalciuric hypercalcemia type 1: case report and review of the literature." The Turkish Journal of Pediatrics5. 2023:853-861. Available from: DOI: 10.24953/turkjped.2022.1040
  31. Reddi Alluru S. "Disorders of Calcium: Hypercalcemia." Fluid, Electrolyte and Acid-Base Disorders: Clinical Evaluation and Management. Cham: Springer International Publishing. 2023:291-311. Available from: https://doi.org/10.1007/978-3-031-25810-7_19
  32. Minisola S, Pepe J, Piemonte S, Cipriani C. "The diagnosis and management of hypercalcaemia." Bmj 350. 2015. Available from:  doi: https://doi.org/10.1136/bmj.h2723.

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