When to suspect a genetic disorder in a patient with renal stones, and why

Pietro Manuel Ferraro, Alessandro D'Addessi, Giovanni Gambaro

Research output: Contribution to journalArticlepeer-review

27 Citations (Scopus)

Abstract

Nephrolithiasis is a common disorder, with a rising prevalence in the general population. Its pathogenesis is still unclear, but a role for genetics has long been recognized, especially in cases of the more common calcium nephrolithiasis. Although relatively rare, monogenic causes of hypercalciuria and nephrolithiasis do exist and their timely recognition is important from a prognostic and therapeutic viewpoint. This article reviews the clinical and laboratory findings characterizing inherited causes of nephrolithiasis with a view to helping clinicians to recognize and manage these rare conditions.
Original languageEnglish
Pages (from-to)N/A-N/A
JournalNephrology Dialysis Transplantation
DOIs
Publication statusPublished - 2013

Keywords

  • Cystinuria
  • Nephrolithiasis

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