Familial hypocalciuric hypercalcemia: Difference between revisions

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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


==[[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) located on the short arm of the chromosome 3 (FBHH3q). The mutation of CaSR is associated with two inherited conditions FBHH and neonatal hyperparathyroidism. 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]]==

Latest revision as of 18:46, 25 September 2017

Familial hypocalciuric hypercalcemia Microchapters

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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