Familial hypocalciuric hypercalcemia: Difference between revisions

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'''For patient information, click [[Xyz (patient information)|here]]'''
'''For patient information, click [[Xyz (patient information)|here]]'''


{{CMG}}; {{AE}}
{{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]]==
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==[[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 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]]
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Latest revision as of 18:46, 25 September 2017

Familial hypocalciuric hypercalcemia Microchapters

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Overview

Historical Perspective

Classification

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Differentiating Familial Hypocalciuric Hypercalcemia from other Diseases

Epidemiology and Demographics

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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

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1