Gouty diathesis describes uric acid or calcium oxalate nephrolithiasis and low urinary pH (<5.5). A hereditary component has been outlined for several forms of nephrolithiasis (such as hypercalciuria, hyperoxaluria, cystinuria, renal tubular acidosis), leading to the hypothesis of a genetic predisposition to nephrolithiasis. At the Unit of Nephrology, Ospedali Riuniti di Bergamo, more than 100 patients affected by gouty diathesis are followed. Fifty percent of them has a familiarity for kidney stones formation. The aim of our study is to identify the genetic factors that predispose to the development of nephrolithiasis in patients with gouty diathesis.
Name: Genetic analyses
Name: Genetic analyses
Case Control
There is one SNP
They found an association of UAN to a new gene, called ZNF365, and in particular to its variant Ala62Thr, making it a strong candidate predisposing factor. --- Ala62Thr ---