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Repeated calcium stones associated with medullary sponge kidney may be related to an autosomal dominant mutation of a still unknown gene, however the genes is GDNF seems to be a gene involved in renal morphogenesis. [12] In conjunction with the gene research is another theory of how the disease manifests. This is called the free particle theory.
Defects in the CLC-5 gene were shown to be the cause of 60% of cases of Dent's disease, which is characterized by tubular proteinuria, formation of kidney stones, excess calcium in the urine, nephrocalcinosis, and chronic kidney failure. This is caused by abnormalities that occur in the endocytosis process when CLC-5 is mutated.
A kidney stone (yellow) composed of calcium oxalate, next to a tourmaline gemstone for scale. Calcium is one component of the most common type of human kidney stones, calcium oxalate. Some studies suggest that people who take calcium or vitamin D as a dietary supplement have a higher risk of developing kidney stones.
The plasma total calcium concentration is in the range of 2.2–2.6 mmol/L (9–10.5 mg/dL), and the normal ionized calcium is 1.3–1.5 mmol/L (4.5–5.6 mg/dL). [4] The amount of total calcium in the blood varies with the level of plasma albumin, the most abundant protein in plasma, and therefore the main carrier of protein-bound calcium in the blood.
Additionally, hypercalciuria can contribute to kidney stone formation which may present with flank or back pain that comes and goes. It can be painful to pass kidney stones and in extreme cases cause kidney damage. [2] [3] Patients that both form kidney stones and have hypercalciuria are at increased risk for bone loss leading to osteoporosis. [4]
Three different tests may be used to measure calcium levels in urine, 24-hour urine tests, blood tests, and genetic tests. Measuring calcium levels can also be done using an oral calcium tolerance test. [24] Ultrasound and CT scans of the urinary tract can be done to diagnose kidney stones or kidney abnormalities as IH often accompanies it.
Calculi in the urinary system are called urinary calculi and include kidney stones (also called renal calculi or nephroliths) and bladder stones (also called vesical calculi or cystoliths). They can have any of several compositions, including mixed. Principal compositions include oxalate and urate. Calculi in the prostate are called prostatic ...
Struvite kidney stones are also known as triple phosphate stones (calcium magnesium ammonium phosphate), owing to the presence of carbonate apatite that precipitates to accompany struvite at high pH. [10] [11] [12] Struvite and carbonate apatite precipitate in alkaline urine, forming kidney stones.