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

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.

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Key information

Conditions

Acidosis, Renal Tubular Acid-Base Imbalance Acidosis Calculi Congenital, Hereditary, and Neonatal Diseases and Abnormalities Female Urogenital Diseases Female Urogenital Diseases and Pregnancy Complications Genetic Diseases, Inborn Kidney Calculi Kidney Diseases Male Urogenital Diseases Metabolic Diseases Nephrolithiasis Nutritional and Metabolic Diseases Pathological Conditions, Anatomical Pathological Conditions, Signs and Symptoms Renal Tubular Transport, Inborn Errors Urinary Calculi Urogenital Diseases Urolithiasis Urologic Diseases Vacuolar Proton-Translocating ATPases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Department of Nephrology and Hypertension, Bern University Hospital

Bern, 3010, Switzerland

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

One or more episodes of nephrolithiasis

Exclusion criteria

Absence of informed consent
All conditions affecting renal acidification
Pregnancy
Nursing

Treatment and study plan

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.

Other names: Application of Furosemide (Lasix® ) and Fludrocortisone (Florinef®)

Primary outcomes

Capability of urinary acidification

Time frame: Five to six hours

Secondary outcomes

Polymorphisms in the ATP6V1 gene

Time frame: 12 months

Sponsors and collaborators

Lead sponsor

Insel Gruppe AG, University Hospital Bern

Other

Registry information

Official study title

Comparison of Furosemide/Fludrocortisone With Ammonium Chloride Loading Test in the Diagnosis of Incomplete dRTA in Kidney Stone Formers

Important dates

Study start: 2012
Primary completion: 2016
Study completion: 2017
First posted: Sep 21, 2012
Registry last updated: Oct 9, 2018

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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Completed