Familial hypocalciuric hypercalcemia pathophysiology

Familial hypocalciuric hypercalcemia Microchapters
Home
Patient Information
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
Diagnostic Criteria
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X-ray
Echocardiography and Ultrasound
CT scan
MRI
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Familial hypocalciuric hypercalcemia pathophysiology On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Familial hypocalciuric hypercalcemia pathophysiology All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Familial hypocalciuric hypercalcemia pathophysiology
CDC on Familial hypocalciuric hypercalcemia pathophysiology
Familial hypocalciuric hypercalcemia pathophysiology in the news
Blogs on Familial hypocalciuric hypercalcemia pathophysiology
Directions to Hospitals Treating Psoriasis
Risk calculators and risk factors for Familial hypocalciuric hypercalcemia pathophysiology

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

Overview

The exact pathogenesis of [disease name] is not fully understood.

OR

It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].

OR

[Pathogen name] is usually transmitted via the [transmission route] route to the human host.

OR

Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.

OR

[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].

OR

The progression to [disease name] usually involves the [molecular pathway].

OR

The pathophysiology of [disease/malignancy] depends on the histological subtype.

Pathophysiology

Pathogenesis

• The pathophysiology of familial hypocalciuric hypercalcemia is due to an inactivating mutation in the calcium sensing receptor (CaSR) located on the short arm of the chromosome 3 (FBHH3q).
• 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 the any changes in the circulating calcium concentrated and send this information through the signalling pathway to the Parathyroid gland that modifies the PTH secretion.

Genetics

• [Disease name] is transmitted in [mode of genetic transmission] pattern.
• Genes involved in the pathogenesis of [disease name] include [gene1], [gene2], and [gene3].
• The development of [disease name] is the result of multiple genetic mutations.

Associated Conditions

FHH, sometimes is associated with pancreatitis as mutation in CaSR can make the pancreas susceptible for inflammation.

Gross Pathology

• On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].

Microscopic Pathology

• On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].