Familial mixed nephrocalcinosis as a cause of chronic kidney failure: two case reports

J Med Case Rep. 2014 Oct 27;8:355. doi: 10.1186/1752-1947-8-355.


Introduction: Nephrocalcinosis consists of the deposition of calcium salts in the renal parenchyma and is considered the mixed form when it involves the renal cortex and medulla. The main etiological agents of this condition are primary hyperparathyroidism, renal tubular acidosis, medullary sponge kidney, hyperoxaluria and taking certain drugs. These factors can lead to hypercalcemia and/or hypercalciuria, which can give rise to nephrocalcinosis.

Case presentations: Patient 1 was a 48-year-old Caucasian woman with a history of bilateral nephrocalcinosis causing chronic kidney failure. Imaging examinations (X-ray, ultrasound and computed tomography of the abdomen) revealed extensive calcium deposits in the renal parenchyma, indicating nephrocalcinosis as the causal factor of the disease. Patient 2 is the 45-year-old brother of patient 1. He exhibited an advanced stage of chronic kidney failure. As nephrocalcinosis is considered to have a genetic component, a family investigation revealed this condition in patient 2.

Conclusion: Nephrocalcinosis may be detected incidentally through diagnostic imaging studies. Whenever possible, treatment should include the base disease that caused the appearance of the calcification, as the precise etiological determination is extremely important.

Publication types

  • Case Reports

MeSH terms

  • Female
  • Humans
  • Kidney / diagnostic imaging
  • Kidney Failure, Chronic / etiology*
  • Kidney Failure, Chronic / genetics
  • Male
  • Middle Aged
  • Nephrocalcinosis / complications*
  • Nephrocalcinosis / diagnostic imaging
  • Nephrocalcinosis / genetics
  • Siblings
  • Tomography, X-Ray Computed