Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Nephrocalcinosis

The precipitation of solid material in the kidney leads to formation of clusters within the parenchyma.

Diseases

Apparent mineralocorticoid excess
Nephrocalcinosis in AME is necessarily associated with hypertension and hypokalemia and caused by hypercalciuria.
Antenatal Bartter syndrome type 1
Nephrocalcinosis in antenatal Bartter syndrome results from hypercalciuria and is accompanied by hypokalemia and metabolic alkalosis.
Antenatal Bartter syndrome type 2
Nephrocalcinosis in antenatal Bartter syndrome results from hypercalciuria and is accompanied by hypokalemia and metabolic alkalosis.
Cystinosis
Nephrocalcinosis is relatively common in cystinosis though calculi are rare probably because of alkalization and dilution of the urine.
Dent disease
Nephrocalcinosis develops based on impaired renal calcium and phosphate handling. The probability to detect it increases with age.
Hypomagnesemia with hypercalciuria and nephrocalcinosis with ocular involvement
Nephrocalcinosis in FHHNC with ocular involvement is accompanied by hypomagnesemia and hypocalemia due to excessive renal losses. By contrast to other diseases with nephrocalcinosis, progressive renal failure is typical. Also ocular invovment is essential for the diagnosis.
Glucose-Galactose Malabsorption
In patient with glucose-galactose malabsorption also nephrocalcinosis can develop associated with proximal tubular damage such as acidosis.
Hypomagnesemia with hypercalciuria and nephrocalcinosis
Nephrocalcinosis in FHHNC without ocular involvement is accompanied by hypomagnesemia and hypocalemia due to excessive renal losses. By contrast to other diseases with nephrocalcinosis, progressive renal failure is typical.
Nephrolithiasis/osteoporosis, hypophosphatemic, 1
Nephrocalcinosis is the result of excessive renal wastage of calcium and phosphate.
Williams-Beuren syndrome
Nephrocalcinosis and urolithiasis are the major renal symptoms of Williams-Beuren syndrome.
Update: Sept. 26, 2018

 

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