Familial hypocalciuric hypercalcemia
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Synonyms and keywords:
Overview
Historical Perspective
Classification
Three genetically heterogeneous variants are reported so far for familial hypocalciuric hypercalcemia. Type 1 - due to loss-of-functional mutations of the calcium-sensing receptor (encoded by CASR). Type 2 - unknown cause. Type 3 - associated with adaptor-related protein complex 2, sigma 1 subunit (AP2S1) mutations, which alter calcium-sensing receptor endocytosis [1][2]
Pathophysiology
The pathophysiology of [Familial hypocalciuric hypercalcemia] is due to an inactivating missense mutation in the calcium sensing receptor (CaSR)[3][4][5] located on the short arm of the chromosome 3 (FBHH3q)[6]. The mutation of CaSR is associated with two inherited conditions FBHH and neonatal hyperparathyroidism[7]. CaSR is a plasma membrane G protein coupled receptor which is expressed on the chief cells of the parathyroid glands and the cells lining the renal tubules. CasR has the ability to sense any changes in the circulating calcium concentrated and send this information through the signaling pathway to the Parathyroid gland that modifies the PTH secretion.
Causes
Differentiating Xyz from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms | Physical Examination | Electrocardiogram | Laboratory Findings | X-Ray Findings | Echocardiography and Ultrasound | CT-Scan Findings | MRI Findings | Other Diagnostic Studies | Other Imaging Findings
Treatment
Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies
Case Studies
- ↑ "Mutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia — NEJM".
- ↑ Nesbit, M Andrew; Hannan, Fadil M; Howles, Sarah A; Reed, Anita A C; Cranston, Treena; Thakker, Clare E; Gregory, Lorna; Rimmer, Andrew J; Rust, Nigel; Graham, Una; Morrison, Patrick J; Hunter, Steven J; Whyte, Michael P; McVean, Gil; Buck, David; Thakker, Rajesh V (2012). "Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3". Nature Genetics. 45 (1): 93–97. doi:10.1038/ng.2492. ISSN 1061-4036.
- ↑ Bai M, Janicic N, Trivedi S, Quinn SJ, Cole DE, Brown EM, Hendy GN (1997). "Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism". J. Clin. Invest. 99 (8): 1917–25. doi:10.1172/JCI119359. PMC 508016. PMID 9109436.
- ↑ Colella M, Gerbino A, Hofer AM, Curci S (2016). "Recent advances in understanding the extracellular calcium-sensing receptor". F1000Res. 5. doi:10.12688/f1000research.8963.1. PMC 5074356. PMID 27803801.
- ↑ Brown EM (1997). "Mutations in the calcium-sensing receptor and their clinical implications". Horm. Res. 48 (5): 199–208. PMID 9362389.
- ↑ Garioch JJ, Mackie RM, Campbell I, Forsyth A (1991). "Keratinocyte expression of intercellular adhesion molecule 1 (ICAM-1) correlated with infiltration of lymphocyte function associated antigen 1 (LFA-1) positive cells in evolving allergic contact dermatitis reactions". Histopathology. 19 (4): 351–4. PMID 1682230.
- ↑ Pollak MR, Brown EM, Chou YH, Hebert SC, Marx SJ, Steinmann B, Levi T, Seidman CE, Seidman JG (1993). "Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism". Cell. 75 (7): 1297–303. PMID 7916660.