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Genetic Study of Nephrolithiasis in Gouty Diathesis

This study has been terminated.
(Non significative preliminary data)
Information provided by:
Mario Negri Institute for Pharmacological Research Identifier:
First received: September 7, 2005
Last updated: April 8, 2015
Last verified: October 2009
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.

Condition Intervention
Other: Genetic analyses

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Genetic Study of Nephrolithiasis in Gouty Diathesis

Resource links provided by NLM:

Further study details as provided by Mario Negri Institute for Pharmacological Research:

Biospecimen Retention:   Samples With DNA
Whole blood on EDTA

Enrollment: 37
Study Start Date: May 2005
Study Completion Date: May 2010
Primary Completion Date: January 2010 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Patients with gouthy diathesis Other: Genetic analyses
Healthy subjects Other: Genetic analyses

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Ages Eligible for Study:   10 Years to 85 Years   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Unrelated patients with familial form of nephrolithiasis associated with gouty diathesis (at least two affected subjects within a family).

Inclusion Criteria:

  • male and female, ≥ 10 years of age
  • uric acid or calcium oxalate nephrolithiasis
  • urinary 24 h pH < 5.5 in absence of high animal protein intake (urinary sulphate excretion <25 mM/24 h after one week of low animal protein intake)
  • familial history of kidney stones (at least two first or second degree family members affected)
  • written informed consent according to the Declaration of Helsinki guidelines

Exclusion Criteria:

  • renal colic in the 4 weeks preceding evaluations
  • excessive gastrointestinal alkali loses
  • inability to fully understand the purposes of the study or to provide a written informed consent
  Contacts and Locations
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Please refer to this study by its identifier: NCT00149305

Clinical Research Center for Rare Diseases
Ranica, Bergamo, Italy, 24020
Sponsors and Collaborators
Mario Negri Institute for Pharmacological Research
Principal Investigator: Erica Daina, MD Mario Negri Institute
  More Information

Responsible Party: Mario Negri Institute for Pharmacological Research Identifier: NCT00149305     History of Changes
Other Study ID Numbers: GOUTY DIATESIS
Study First Received: September 7, 2005
Last Updated: April 8, 2015

Keywords provided by Mario Negri Institute for Pharmacological Research:
Gouty diathesis
Acid uric nephrolithiasis

Additional relevant MeSH terms:
Kidney Calculi
Disease Susceptibility
Kidney Diseases
Urologic Diseases
Urinary Calculi
Pathological Conditions, Anatomical
Disease Attributes
Pathologic Processes processed this record on May 25, 2017