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Nephrolitiasis (NL)

Definition

NL is a common kidney stone formation disease. The incidence of NL has progressively increased during the past 30 years in most industrialized etiology of the most frequent forms of calcium stones is multifactorial; involving nutritional, environmental, and polygenic genetic determinants. Kidney stones are frequently associated with urinary metabolic disorders including as hypercalciuria (40 to 75%), hyperoxaluria (5 to 20%), hyperuricosuria (~ 10%) and hypocitraturia (20%). Of all the processes occurring in the immediate post-glomerular nephron, it is abnormalities of phosphate reabsorption that are more commonly implicated. NL can impair kidney function with complications such as obstruction, infection and parenchymal damage.

Why to perform genetic testing in cases with suspected NL?

  • To better perform risk stratification and prognosis
  • To select the best therapeutic option for that spcific patient based on the genotype
  • To identify other relatives at risk to develop the disease

 

Our NL panel

ADCY10, AGXT, APRT, ATP6V1B1, ATP6V0A4, CA2, CASR, CLCN5, CLDN16, CYP24A1, FAM20A, GRHPR, HOGA1, KCNJ1, OCRL, RET, SLC34A1, SLC22A12, SLC34A3, SLC4A1, SLC12A1, SLC22A12, SLC2A9, XDH.

Important: All our panels can be modified based on the phenotype. Please contact us if you have questions

What to expect from this test: The yield of the test depends on the phenotype. When family history is positive the yield can reach 80%.

 

Recommended Literature

  • Inherited proximal tubular disorders and nephrolithiasis. Oliveria B., et al., Urolithiasis. 2019 Feb;47(1):35-42.
  • Personalized Intervention in Monogenic Stone Formers.Policastro LJ, et al., J Urol. 2018 Mar;199(3):623-632
  • Meeting report of the “Symposium on kidney stones and mineral metabolism: calcium kidney stones in 2017”. Pozdzik A, et al., 2019; J Nephrol.

 

Download here interesting open access manuscripts on NL