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{{CMG}}; {{AE}} {{Ajay}}
{{CMG}}; {{AE}} {{Ajay}}


{{SK}}  
{{SK}} FHH, Familial benign hypocalciuric hypercalcemia, Hypercalcemia


==[[Familial hypocalciuric hypercalcemia overview|Overview]]==
==[[Familial hypocalciuric hypercalcemia overview|Overview]]==
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==[[Familial hypocalciuric hypercalcemia classification|Classification]]==
==[[Familial hypocalciuric hypercalcemia classification|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 <ref name="urlMutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia — NEJM">{{cite web |url=http://www.nejm.org/doi/full/10.1056/NEJMoa1300253#t=article |title=Mutations Affecting G-Protein Subunit α11 in Hypercalcemia and Hypocalcemia — NEJM |format= |work= |accessdate=}}</ref><ref name="NesbitHannan2012">{{cite journal|last1=Nesbit|first1=M Andrew|last2=Hannan|first2=Fadil M|last3=Howles|first3=Sarah A|last4=Reed|first4=Anita A C|last5=Cranston|first5=Treena|last6=Thakker|first6=Clare E|last7=Gregory|first7=Lorna|last8=Rimmer|first8=Andrew J|last9=Rust|first9=Nigel|last10=Graham|first10=Una|last11=Morrison|first11=Patrick J|last12=Hunter|first12=Steven J|last13=Whyte|first13=Michael P|last14=McVean|first14=Gil|last15=Buck|first15=David|last16=Thakker|first16=Rajesh V|title=Mutations in AP2S1 cause familial hypocalciuric hypercalcemia type 3|journal=Nature Genetics|volume=45|issue=1|year=2012|pages=93–97|issn=1061-4036|doi=10.1038/ng.2492}}</ref>


==[[Familial hypocalciuric hypercalcemia pathophysiology|Pathophysiology]]==
==[[Familial hypocalciuric hypercalcemia pathophysiology|Pathophysiology]]==
The pathophysiology of [Familial hypocalciuric hypercalcemia] is due to an inactivating missense mutation in the calcium sensing receptor (CaSR)<ref name="pmid9109436">{{cite journal |vauthors=Bai M, Janicic N, Trivedi S, Quinn SJ, Cole DE, Brown EM, Hendy GN |title=Markedly reduced activity of mutant calcium-sensing receptor with an inserted Alu element from a kindred with familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism |journal=J. Clin. Invest. |volume=99 |issue=8 |pages=1917–25 |year=1997 |pmid=9109436 |pmc=508016 |doi=10.1172/JCI119359 |url=}}</ref><ref name="pmid27803801">{{cite journal |vauthors=Colella M, Gerbino A, Hofer AM, Curci S |title=Recent advances in understanding the extracellular calcium-sensing receptor |journal=F1000Res |volume=5 |issue= |pages= |year=2016 |pmid=27803801 |pmc=5074356 |doi=10.12688/f1000research.8963.1 |url=}}</ref><ref name="pmid9362389">{{cite journal |vauthors=Brown EM |title=Mutations in the calcium-sensing receptor and their clinical implications |journal=Horm. Res. |volume=48 |issue=5 |pages=199–208 |year=1997 |pmid=9362389 |doi= |url=}}</ref> located on the short arm of the chromosome 3 (FBHH3q)<ref name="pmid1682230">{{cite journal |vauthors=Garioch JJ, Mackie RM, Campbell I, Forsyth A |title=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 |journal=Histopathology |volume=19 |issue=4 |pages=351–4 |year=1991 |pmid=1682230 |doi= |url=}}</ref>. The mutation of CaSR is associated with two inherited conditions FBHH and neonatal hyperparathyroidism<ref name="pmid7916660">{{cite journal |vauthors=Pollak MR, Brown EM, Chou YH, Hebert SC, Marx SJ, Steinmann B, Levi T, Seidman CE, Seidman JG |title=Mutations in the human Ca(2+)-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism |journal=Cell |volume=75 |issue=7 |pages=1297–303 |year=1993 |pmid=7916660 |doi= |url=}}</ref>. 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.


==[[Familial hypocalciuric hypercalcemia causes|Causes]]==
==[[Familial hypocalciuric hypercalcemia causes|Causes]]==


==[[Familial hypocalciuric hypercalcemia differential diagnosis|Differentiating Xyz from other Diseases]]==
==[[Familial hypocalciuric hypercalcemia differential diagnosis|Differentiating Familial Hypocalciuric Hypercalcemia from other Diseases]]==
Familial hypocalciuric hypercalcemia should be differentiated from other causes of hypercalcemia. Causes of hypercalcemia include:
 
Parathyroid-related
Hyperparathyroidism
Primary hyperparathyroidism
Secondary hyperparathyroidism
Tertiary hyperparathyroidism
Familial hypocalciuric hypercalcemia
Non-parathyroid related
Malignancy
Humoral hypercalcemia of malignancy
Osteolytic tumors
Production of calcitriol by tumors
Ectopic parathyroid hormone production
Medication-induced
Thiazide diuretics
Lithium
Nutritional
Milk-alkali syndrome
Vitamin D toxicity
Granulomatous disease
Sarcoidosis
Surgical
Immobilization


==[[Familial hypocalciuric hypercalcemia epidemiology and demographics|Epidemiology and Demographics]]==
==[[Familial hypocalciuric hypercalcemia epidemiology and demographics|Epidemiology and Demographics]]==
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==[[Familial hypocalciuric hypercalcemia screening|Screening]]==
==[[Familial hypocalciuric hypercalcemia screening|Screening]]==


==[[Familial hypocalciuric hypercalcemia natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
==[[Familial hypocalciuric hypercalcemia natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
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==Case Studies==
==Case Studies==
[[Familial hypocalciuric hypercalcemia case study one|Case #1]]
[[Familial hypocalciuric hypercalcemia case study one|Case #1]]
<references />

Latest revision as of 18:46, 25 September 2017

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ajay Gade MD[2]]

Synonyms and keywords: FHH, Familial benign hypocalciuric hypercalcemia, Hypercalcemia

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Familial Hypocalciuric Hypercalcemia 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

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Case #1

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