Mayo Clinic Laboratories > Renal > Urinary stone services > Hereditary causes of kidney stones

Hereditary causes of kidney stones

Clarify genetic causes

Genetic causes can be linked to kidney stone development. Renal tubular loss of electrolytes or protein or the development of kidney calculi can signal underlying metabolic, endocrine, or renal tubular dysfunction that is genetic in origin, especially when symptoms are present in utero, infancy, or adolescence. When the presence or severity of electrolyte imbalance or kidney stones cannot be explained by acquired causes or when there are multiple cases clustered within a family, genetic testing for the inherited causes of kidney or extrarenal impairment of osmoregulation may be considered.

Hereditary causes of kidney stones TEST MENU

Genetic kidney stone panel Genetic kidney stone panel
Primary and secondary hyperoxaluria Primary and secondary hyperoxaluria

Genetic kidney stone panel

This panel assesses 72 genes associated with inherited conditions that can lead to stone development. Developed by a team of Mayo Clinic nephrologists and geneticists, it uses next-generation sequencing to detect single nucleotide, deletion-insertion, and copy number variants in 72 genes associated with nephrocalcinosis, nephrolithiasis, and renal electrolyte imbalance.

Key testing

Advantages

  • Provides a genetic evaluation for patients with a personal or family history suggestive of a hereditary form of nephrocalcinosis, nephrolithiasis, or renal electrolyte imbalance.
  • Establishes diagnoses for a variety of hereditary conditions associated with renal salt wasting or abnormal salt retention; impaired acid-base, water, and calcium homeostasis; or kidney crystallization.
  • Classifies variants based on known, predicted, or possible pathogenicity and reported with interpretive comments detailing their potential or known significance.
  • Detects both small variants, including single nucleotide variants and insertions and deletions, and copy number variants.
  • Validated to detect 95% of deletions up to 75 base pairs (bp) and insertions up to 47 bp. 
  • Provides standard coverage of +/-10 base pairs flanking each coding exon, along with expanded coverage to detect rare, clinically actionable, intronic genetic variants.

Primary and secondary hyperoxaluria

Mayo Clinic Laboratories is integrated with the Hyperoxaluria Center at Mayo Clinic — one of the most experienced medical centers in the world for diagnosing patients who have primary and secondary hyperoxaluria. Our panel can distinguish between the two forms of hyperoxaluria by quantifying excretion of oxalate, glycolate, glycerate, and 4-hydroxy-2-oxoglutarate. The results of this assay are reported with interpretive comments and include recommendations for molecular testing.

Key testing

Advantages

  • Distinguishes primary from secondary hyperoxaluria.
  • Distinguishes between primary hyperoxaluria 1, 2, and 3.

More information

Primary hyperoxaluria is an inherited error of metabolism due to defective enzyme activity and is classified into types 1, 2, and 3. Increased urine concentrations of oxalate along with glycolate (type 1), glycerate (type 2), or 4-hydroxy-2-oxoglutarate (type 3), suggest a specific primary hyperoxaluria type. Follow-up genetic testing can confirm diagnosis.

Secondary hyperoxaluria is an acquired condition that is caused by an increased intake of dietary oxalate or altered intestinal oxalate absorption. With this condition, glycolate, glycerate, and 4-hydroxy-2- oxoglutarate are not increased. When undiagnosed, these disorders can lead to recurrent renal stones, nephrocalcinosis, and often end-stage renal disease.

When to consider testing

  • For patients who present with urinary stones or nephrocalcinosis in childhood.
  • To determine the etiology of recurrent calcium oxalate stones.
  • To guide appropriate use of definitive testing.
  • In patients with a family history of stone disease.
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