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

NCT01690039 | Completed

• 1 other identifier: 090/12
• Study Type: observational
• Target: 170
• Locations: 1 country
• Sites: 1

Brief Summary

Purpose

1. 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. 2.To study the impact of polymorphisms in the genes ATP6V1B1, ATP6V0A4 and SLC4A1 on urinary acidification in stone formers.

Conditions

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

Keywords

renal tubular acidosis; V-ATPase; kidney stones

Outcome Measures

Primary Outcomes (1)

• Capability of urinary acidification

  Five to six hours

Secondary Outcomes (1)

• Polymorphisms in the ATP6V1 gene

  12 months

Study Arms (1)

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)

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.

Also known as: Application of Furosemide (Lasix® ) and Fludrocortisone (Florinef®)

All study participants

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients suffered from at least one kidney stone episode.

You may qualify if:

• One or more episodes of nephrolithiasis

You may not qualify if:

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

Sponsors & Collaborators

• Insel Gruppe AG, University Hospital Bern: lead

Study Sites (1)

Department of Nephrology and Hypertension, Bern University Hospital

Bern, 3010, Switzerland

Location

Related Links

• Institution homepage

Biospecimen

Retention: SAMPLES WITH DNA

Blood

MeSH Terms

Conditions

Acidosis, Renal Tubular; Nephrolithiasis; Kidney Calculi

Interventions

Furosemide; Fludrocortisone; fludrocortisone acetate

Condition Hierarchy (Ancestors)

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

Intervention Hierarchy (Ancestors)

Sulfanilamides; Sulfonamides; Amides; Organic Chemicals; Aniline Compounds; Amines; Sulfones; Sulfur Compounds; Hydrocortisone; Pregnenediones; Pregnenes; Pregnanes; Steroids; Fused-Ring Compounds; Polycyclic Compounds

Study Officials

• Daniel Fuster, Attending physician Nephrology

  Department of Nephrology and Hypertension, Bern University Hospital

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 10, 2012
• First Posted: September 21, 2012
• Study Start: September 1, 2012
• Primary Completion: December 31, 2016
• Study Completion: May 12, 2017
• Last Updated: October 9, 2018

Record last verified: 2018-10

Locations

CH (1)