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Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations01:26

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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...
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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...
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Urinary Tract Calculi III: Medical Management01:30

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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)...
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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.
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Familial hypocalciuric hypercalcaemia type 3: AP2S1 missense mutation.

Sarah Kerut1, Karthik Reddy Kovvuru2, Licy Yanes-Cardozo2

  • 1Internal Medicine, University of Mississippi Medical Center, Jackson, Mississippi, USA.

BMJ Case Reports
|November 10, 2020
PubMed
Summary
This summary is machine-generated.

Familial hypocalciuric hypercalcaemia (FHH) type 3, a genetic disorder, was diagnosed in a patient with persistent hypercalcaemia and osteoporosis after initial misdiagnosis. Genetic analysis confirmed the FHH type 3 diagnosis.

Keywords:
calcium and boneendocrine system

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Area of Science:

  • Endocrinology
  • Medical Genetics

Background:

  • Hypercalcaemia and osteoporosis management presents diagnostic challenges.
  • Familial hypocalciuric hypercalcaemia (FHH) is an uncommon genetic disorder affecting calcium homeostasis.

Observation:

  • A 45-year-old male presented with hypercalcaemia, low vitamin D, and osteoporosis.
  • Initial diagnosis of primary hyperparathyroidism led to surgery, but hypercalcaemia persisted.

Findings:

  • Genetic analysis revealed a p.arg15cys mutation in the AP2S1 gene, confirming FHH type 3.
  • Low urinary calcium levels, initially attributed to vitamin D deficiency, are characteristic of FHH.

Implications:

  • Accurate genetic diagnosis is crucial for managing FHH and preventing complications.
  • This case highlights the importance of considering genetic causes in persistent hypercalcaemia.