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Nephrolithiasis in medullary sponge kidney: evaluation of clinical and metabolic features

E Fred McPhail1, Matthew T Gettman, David E Patterson

  • 1Department of Urology, Mayo Clinic, Rochester, Minnesota 55905, USA.

Urology
|October 22, 2011
PubMed
Abstract

Insights

Medullary sponge kidney (MSK) patients frequently develop kidney stones, with a high recurrence rate. Metabolic abnormalities are common in stone-forming MSK patients, similar to the general population.

Area of Science:

  • Nephrology
  • Urology
  • Medical Genetics

Background:

  • Medullary sponge kidney (MSK) is a congenital renal disorder characterized by cystic dilation of medullary pyramids.
  • MSK is associated with an increased risk of nephrolithiasis (kidney stone disease).
  • The precise mechanisms and clinical significance of stone formation in MSK remain incompletely understood.

Purpose of the Study:

  • To describe the clinical and metabolic features of nephrolithiasis in a cohort of patients diagnosed with MSK.
  • To investigate the incidence and recurrence of kidney stones in MSK patients.
  • To analyze the composition and metabolic profiles of kidney stones in this population.

Main Methods:

  • A retrospective descriptive study was conducted, reviewing records of 56 patients with a radiographic diagnosis of MSK.
  • Data collected included patient presentation, stone events, stone recurrence, stone composition, and metabolic profiles.
  • Follow-up data was collected for a median of 3.7 years.

Main Results:

  • Nephrolithiasis was radiographically confirmed in 69.6% (39/56) of MSK patients.
  • Recurrent stone events occurred in 33% (13/39) of patients with nephrolithiasis.
  • Metabolic abnormalities were identified in 84.6% (22/26) of stone-forming patients, including hypercalciuria, low urine volume, hyperuricosuria, hypocitraturia, elevated urine sodium, and hyperoxaluria.

Conclusions:

  • A significant proportion of MSK patients do not present with nephrolithiasis.
  • Kidney stone recurrence is common in MSK patients who develop stones.
  • The metabolic profiles and stone compositions in MSK patients are diverse, mirroring those found in the general kidney stone-forming population.

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