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

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT01690039
Recruitment Status : Completed
First Posted : September 21, 2012
Last Update Posted : October 9, 2018
Information provided by (Responsible Party):
University Hospital Inselspital, Berne

Brief Summary:


  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 or disease Intervention/treatment
Acidosis, Renal Tubular Nephrolithiasis Vacuolar Proton-Translocating ATPases Drug: Furosemide-Fludrocortisone-Test (test for urinary acidification)

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Study Type : Observational
Actual Enrollment : 170 participants
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
Study Start Date : September 2012
Actual Primary Completion Date : December 31, 2016
Actual Study Completion Date : May 12, 2017

Group/Cohort Intervention/treatment
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®)

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

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

Biospecimen Retention:   Samples With DNA

Information from the National Library of Medicine

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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT01690039

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Department of Nephrology and Hypertension, Bern University Hospital
Bern, Switzerland, 3010
Sponsors and Collaborators
University Hospital Inselspital, Berne
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Principal Investigator: Daniel Fuster, Attending physician Nephrology Department of Nephrology and Hypertension, Bern University Hospital
Additional Information:
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Responsible Party: University Hospital Inselspital, Berne Identifier: NCT01690039    
Other Study ID Numbers: 090/12
First Posted: September 21, 2012    Key Record Dates
Last Update Posted: October 9, 2018
Last Verified: October 2018
Keywords provided by University Hospital Inselspital, Berne:
renal tubular acidosis
kidney stones
Additional relevant MeSH terms:
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Kidney Calculi
Acidosis, Renal Tubular
Acid-Base Imbalance
Metabolic Diseases
Kidney Diseases
Urologic Diseases
Urinary Calculi
Pathological Conditions, Anatomical
Renal Tubular Transport, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Natriuretic Agents
Physiological Effects of Drugs
Sodium Potassium Chloride Symporter Inhibitors
Membrane Transport Modulators
Molecular Mechanisms of Pharmacological Action
Anti-Inflammatory Agents