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 Bern

Status: Completed

Conditions: Vacuolar Proton-Translocating ATPases; Acidosis, Renal Tubular; Nephrolithiasis

Treatments: Drug: Furosemide-Fludrocortisone-Test (test for urinary acidification)

Study type: Observational

Funder types: Other

Identifiers

NCT01690039

090/12

Details and patient eligibility

About

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.

Enrollment: 170 patients

Sex: All

Ages: 18+ years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• One or more episodes of nephrolithiasis

Exclusion criteria

• Absence of informed consent
• All conditions affecting renal acidification
• Pregnancy
• Nursing

Trial design

170 participants in 1 patient group

All study participants

Description:

Furosemide-Fludrocortisone-Test and Ammonium chloride-Loading Test will be performed in renal stone patients.

Treatment:

Drug: Furosemide-Fludrocortisone-Test (test for urinary acidification)