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Genetic and Rare Diseases Information Center (GARD)

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Other Names for this Disease
  • Hypercalcemic nephropathy
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Your Question

My son has nephrocalcinosis. Could you please tell me about it? Is it genetic? How might it be treated?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is nephrocalcinosis?

Nephrocalcinosis is a disorder in which there is excess calcium deposited in the kidneys. It is relatively common in premature infants. Individuals may be asymptomatic or have symptoms related to the condition causing nephrocalcinosis. If kidney stones are present, an individual may have blood in the urine; fever and chills; nausea and vomiting; or severe pain in the belly area, sides of the back (flank), groin, or testicles. Later symptoms related to nephrocalcinosis may be associated with chronic kidney failure. It may be caused by use of certain medications or supplements; infection; or any condition that leads to high levels of calcium in the blood or urine including hyperparathyroidism, renal tubular acidosis, Alport syndrome, Bartter syndrome, and a variety of other conditions.[1][2] Some of the underlying disorders that can cause nephrocalcinosis are genetic, with the inheritance pattern depending on the specific disorder. The goal of treatment is to reduce symptoms and prevent more calcium from being deposited in the kidneys.[1]
Last updated: 2/24/2011

What causes nephrocalcinosis?

Nephrocalcinosis may be caused by a variety of things, including underlying disorders or conditions, medications or supplements, and infections. Causes may include:

Last updated: 2/24/2011

Is nephrocalcinosis inherited?

Nephrocalcinosis may be caused by a large variety of things, including underlying disorders, certain medications and supplements, and infections. Nephrocalcinosis itself is not inherited. However, the underlying condition that is causing nephrocalcinosis in an individual may be inherited. Some inherited conditions that may be associated with nephrocalcinosis in affected individuals are:

Last updated: 2/24/2011

How might nephrocalcinosis be treated?

Treatment of nephrocalcinosis includes treating the underlying condition causing nephrocalcinosis, if it is known. The goal of treatment is to reduce symptoms and prevent more calcium from being deposited in the kidneys. Measures are usually taken to reduce abnormal levels of calcium, phosphate, and oxalate in the blood. Medications that cause calcium loss are typically stopped.[1]

Treatment of hypercalcemia (increased calcium levels in the blood) and hypercalcemic nephropathy typically includes adequate hydration by isotonic sodium chloride (normal saline) solution to reverse hypercalcemia and protect the kidneys. Treatment of macroscopic nephrocalcinosis (calcium deposition that is visible without magnification) may include thiazide diuretics and dietary salt restriction; potassium and magnesium supplementation; and citrate supplementation in idiopathic hypercalciuria (of unknown cause) and in distal renal tubular acidosis. Lessening of nephrocalcinosis may occur over time, but in many cases, such as when it results from primary hyperoxaluria or distal renal tubular acidosis, nephrocalcinosis is largely irreversible. Therefore, early detection and treatment are important.[2]

Individuals interested in learning about treatment options for themselves should speak with their health care provider or a nephrologist.
Last updated: 2/24/2011