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Report for Clinical Trial NCT00149305

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Genetic Study of Nephrolithiasis in Gouty Diathesis

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.

NCT00149305 Nephrolithiasis
MeSH:Nephrolithiasis Kidney Calculi Disease Susceptibility

2 Interventions

Name: Genetic analyses

Type: Other
Group Labels: 1

Patients with gouthy diathesis

Name: Genetic analyses

Type: Other
Group Labels: 1

Healthy subjects

Time Perspective: Prospective

Case Control

There is one SNP


1 A62T

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 ---

HPO Nodes