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Related Concept Videos

Urinary Tract Calculi I: Introduction01:28

Urinary Tract Calculi I: Introduction

Renal calculi, or kidney stones, are solid deposits of minerals and salts formed inside the kidneys. In medical terminology, "calculus" refers to the stone itself, while "lithiasis" describes the process of stone formation. Depending on their location within the urinary system, these stones may be classified as either urolithiasis, when situated within the urinary tract, or nephrolithiasis, when located within the kidneys. Each term signifies the specific impact of the stone.Predisposition...
Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations01:26

Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations

Renal calculi, commonly termed kidney stones, are crystalline solid masses that form in the kidneys but can occur at any point within the urinary system, encompassing the kidneys, ureters, bladder, and urethra.The pathophysiology of renal stones involves several key factors: supersaturation of the urine with stone-forming constituents, changes in urine pH, a decrease in urine volume, and the presence of substances that promote or inhibit stone formation.Supersaturation of Urine: This is the...
Skeleton and Calcium Homeostasis01:21

Skeleton and Calcium Homeostasis

Calcium is not only the most abundant mineral in bone but also the most abundant mineral in the human body. Calcium ions are needed for bone mineralization, tooth health, heart rate regulation and strength of contraction, blood coagulation, the contraction of smooth and skeletal muscle cells, and the regulation of nerve impulse conduction. The average calcium level in the blood is about 10 mg/dL. When the body cannot maintain this level, a person will experience hypo or hypercalcemia.
The Parathyroid Glands00:59

The Parathyroid Glands

The two pairs of parathyroid glands embedded within the posterior surface of the thyroid gland are restricted by a dense capsule around them. These glands comprise two distinct cell populations—parathyroid oxyphil and parathyroid principal cells- pivotal in calcium homeostasis.
Oxyphil cells, whose functions remain elusive, emerge during late puberty, adding a layer of complexity to the parathyroid gland's intricacies. In contrast, principal parathyroid cells undertake a vital role by producing...
Urinary Tract Calculi III: Medical Management01:30

Urinary Tract Calculi III: Medical Management

The diagnosis of renal calculi involves several imaging techniques, including non-contrast CT scans and ultrasound. These methods help visualize kidney stones, assess their size and location, and detect possible obstructions. Additionally, Measuring urine pH is useful for diagnosing specific stone types, such as struvite (alkaline pH) and uric acid stones (acidic pH). Cystine stones are primarily linked to cystinuria, a genetic condition. A urinalysis helps detect blood in the urine (hematuria)...
Synthesis and Functions of Calcitonin00:51

Synthesis and Functions of Calcitonin

Calcitonin, a vital polypeptide hormone, regulates calcium levels within body fluids. It is released by the parafollicular cells, also known as C cells, situated in the follicular epithelium of the thyroid gland. Calcitonin responds to fluctuations in blood calcium levels and the influence of gastrointestinal hormones like gastrin and cholecystokinin.
The exact mechanisms by which calcitonin operates in calcium homeostasis remain elusive, but its significance is evident in several vital...

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Related Experiment Video

Updated: May 28, 2026

Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis
07:45

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Published on: February 9, 2021

Familial hypocalciuric hypercalcaemia: a review.

Signe E Christensen1, Peter H Nissen, Peter Vestergaard

  • 1Department of Medicine and Endocrinology, Aarhus University Hospital, Aarhus C, Denmark. doktor_signe@hotmail.com

Current Opinion in Endocrinology, Diabetes, and Obesity
|October 12, 2011
PubMed
Summary

Familial hypocalciuric hypercalcaemia (FHH) is a benign genetic disorder caused by calcium sensing receptor gene mutations. A two-step diagnostic approach involving urine calcium excretion and genetic testing accurately identifies FHH.

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Last Updated: May 28, 2026

Estimation of Urinary Nanocrystals in Humans using Calcium Fluorophore Labeling and Nanoparticle Tracking Analysis
07:45

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Published on: February 9, 2021

Two Techniques to Create Hypoparathyroid Mice: Parathyroidectomy Using GFP Glands and Diphtheria-Toxin-Mediated Parathyroid Ablation
07:13

Two Techniques to Create Hypoparathyroid Mice: Parathyroidectomy Using GFP Glands and Diphtheria-Toxin-Mediated Parathyroid Ablation

Published on: March 14, 2017

Area of Science:

  • Endocrinology
  • Genetics
  • Nephrology

Background:

  • Hypercalcaemia is a serious condition requiring differentiation from benign familial hypocalciuric hypercalcaemia (FHH).
  • FHH is a rare, lifelong, autosomal dominant disorder caused by calcium sensing receptor (CASR) gene mutations.
  • Distinguishing FHH from hypercalcaemia of malignancy and primary hyperparathyroidism (PHPT) is crucial.

Purpose of the Study:

  • To review the characteristics of FHH.
  • To outline diagnostic strategies for FHH.
  • To emphasize the importance of differentiating FHH from other hypercalcaemic states.

Main Methods:

  • Review of literature on FHH.
  • Analysis of genetic causes (CASR gene mutations).
  • Description of a two-step diagnostic procedure: calcium/creatinine clearance ratio and CASR gene mutation testing.

Main Results:

  • FHH results from inactivating CASR mutations, causing calcium hyposensitivity, hypercalcaemia, and hypocalciuria.
  • FHH presents with normal phenotype, typically absent hypercalcaemic symptoms, and normal renal function.
  • Hallmarks include elevated parathyroid hormone and low urinary calcium excretion, contrasting with PHPT.

Conclusions:

  • FHH generally does not require treatment.
  • A diagnostic approach combining calcium/creatinine clearance ratio and CASR gene testing achieves 98% sensitivity.
  • Accurate diagnosis of FHH is essential for appropriate patient management.