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Influence of Polymorphisms in the ATP6V1 Gene of the V-ATPase on the Development of Incomplete Distal Renal Tubular Acidosis

This study is currently recruiting participants. (see Contacts and Locations)
Verified November 2016 by University Hospital Inselspital, Berne
Information provided by (Responsible Party):
University Hospital Inselspital, Berne Identifier:
First received: September 10, 2012
Last updated: November 24, 2016
Last verified: November 2016


  1. To compare the performance of the two currently employed urinary acidifications tests in stone formers, the furosemide/fludrocortisone and ammonium chloride loading test.
  2. To study the impact of polymorphisms in the genes ATP6V1B1, ATP6V0A4 and SLC4A1 on urinary acidification in stone formers.

Condition Intervention
Acidosis, Renal Tubular
Vacuolar Proton-Translocating ATPases
Drug: Furosemide-Fludrocortisone-Test (test for urinary acidification)

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Comparison of Furosemide/Fludrocortisone With Ammonium Chloride Loading Test in the Diagnosis of Incomplete dRTA in Kidney Stone Formers

Resource links provided by NLM:

Further study details as provided by University Hospital Inselspital, Berne:

Primary Outcome Measures:
  • Capability of urinary acidification [ Time Frame: Five to six hours ]

Secondary Outcome Measures:
  • Polymorphisms in the ATP6V1 gene [ Time Frame: 12 months ]

Biospecimen Retention:   Samples With DNA

Estimated Enrollment: 200
Study Start Date: September 2012
Estimated Study Completion Date: September 2017
Estimated Primary Completion Date: September 2017 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
All study participants
Furosemide-Fludrocortisone-Test and Ammonium chloride-Loading Test will be performed in renal stone patients.
Drug: Furosemide-Fludrocortisone-Test (test for urinary acidification)
The presence of a lack of urinary acidification will be assessed by an appropriate test in all patients.
Other Name: Application of Furosemide (Lasix® ) and Fludrocortisone (Florinef®)


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Patients suffered from at least one kidney stone episode.

Inclusion Criteria:

  • One or more episodes of nephrolithiasis

Exclusion Criteria:

  • Absence of informed consent
  • All conditions affecting renal acidification
  • Pregnancy
  • Nursing
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01690039

Contact: Daniel Fuster, Attending physician Nephrology ++41 (0)31 631 37 49
Contact: Nasser Dhayat, Resident Nephrology ++41 (0)31 632 31 44

Department of Nephrology and Hypertension, Bern University Hospital Recruiting
Bern, Switzerland, 3010
Principal Investigator: Fuster Daniel, Attending physician Nephrology         
Sub-Investigator: Nasser Dhayat, Resident Nephrology         
Sponsors and Collaborators
University Hospital Inselspital, Berne
Principal Investigator: Daniel Fuster, Attending physician Nephrology Department of Nephrology and Hypertension, Bern University Hospital
  More Information

Additional Information:
Responsible Party: University Hospital Inselspital, Berne Identifier: NCT01690039     History of Changes
Other Study ID Numbers: 090/12
Study First Received: September 10, 2012
Last Updated: November 24, 2016

Keywords provided by University Hospital Inselspital, Berne:
renal tubular acidosis
kidney stones

Additional relevant MeSH terms:
Kidney Calculi
Acidosis, Renal Tubular
Kidney Diseases
Urologic Diseases
Urinary Calculi
Pathological Conditions, Anatomical
Acid-Base Imbalance
Metabolic Diseases
Renal Tubular Transport, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Anti-Inflammatory Agents
Natriuretic Agents
Physiological Effects of Drugs
Sodium Potassium Chloride Symporter Inhibitors
Membrane Transport Modulators
Molecular Mechanisms of Pharmacological Action processed this record on May 25, 2017