title: When to suspect a genetic disorder in a patient with renal stones, and why.
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.
authors.affiliation: Division of Nephrology, Department of Internal Medicine and Medical Specialties, Columbus-Gemelli University Hospital, Catholic University, Rome, Italy.
authors.forename: Pietro Manuel
authors.initials: PM
authors.lastname: Ferraro
authors.forename: Alessandro
authors.initials: A
authors.lastname: D'Addessi
authors.forename: Giovanni
authors.initials: G
authors.lastname: Gambaro
mesh_terms: D020022:Genetic Predisposition to Disease; D006801:Humans; D053040:Nephrolithiasis / Q000175:diagnosis / Q000209:etiology*