Familial hypocalciuric hypercalcemia: Difference between revisions
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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]]== | ||
Revision as of 17:53, 13 September 2017
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Familial hypocalciuric hypercalcemia Microchapters |
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Differentiating Familial Hypocalciuric Hypercalcemia from other Diseases |
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Diagnosis |
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Treatment |
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Case Studies |
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Familial hypocalciuric hypercalcemia On the Web |
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American Roentgen Ray Society Images of Familial hypocalciuric hypercalcemia |
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Risk calculators and risk factors for Familial hypocalciuric hypercalcemia |
For patient information, click here
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
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.