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

Insel Gruppe AG, University Hospital Bern170 enrolled

Overview

Purpose 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.

Study Type

OBSERVATIONAL

Enrollment

170

Conditions

Acidosis, Renal Tubular Nephrolithiasis Vacuolar Proton-Translocating ATPases

Interventions

Furosemide-Fludrocortisone-Test (test for urinary acidification)DRUG

The presence of a lack of urinary acidification will be assessed by an appropriate test in all patients.

Eligibility

Sex: ALLMin age: 18 YearsHealthy volunteers:

Medical Language ↔ Plain English

Inclusion Criteria: * One or more episodes of nephrolithiasis Exclusion Criteria: * Absence of informed consent * All conditions affecting renal acidification * Pregnancy * Nursing

Locations (1)

Department of Nephrology and Hypertension, Bern University Hospital

Bern, Switzerland

Outcomes

Primary Outcomes

Capability of urinary acidification

Time frame: Five to six hours

Secondary Outcomes

Polymorphisms in the ATP6V1 gene

Time frame: 12 months

Data from ClinicalTrials.gov

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