Clinical Significance of Heterozygosity for Mutations of the SLC12A3 Gene Coding for the Thiazide Sensitive Na-Cl Cotransporter

Summary

Gitelman syndrome is a salt wasting tubulopathy caused by mutations in the SLC12A3 gene coding for the thiazide sensitive sodium chloride cotransporter. This disease mimics the chronic treatment with thiazide diuretics and is characterized by renal hypokalemia, low to normal blood pressure, hypocalciuria and hypomagnesemia. The purpose of this study is to determine whether the heterozygous carriers present the metabolic risks and/or the benefits of this disease.

Conditions

• Heterozygous Carriers of Gitelman Syndrome

Interventions

PROCEDURE

Samplings of blood

PROCEDURE

Sampling of urine

PROCEDURE

Measure of the blood pressure

PROCEDURE

glycemia test

Sponsors & Collaborators

• Ministry of Health, France

  collaborator OTHER_GOV

• Assistance Publique - Hôpitaux de Paris

  lead OTHER

Principal Investigators

• Rosa Vargas-Poussou, MD, PhD · Departement of Genetics. Assistance Publique Hôpitaux de Paris,Hôpital Européen Georges Pompidou.

• Anne Blanchard, MD, PhD · Clinical Research Center. Assistance Publique Hôpitaux de Paris, Hôpital Européen Georges Pompidou. Paris, France

• Marie Essig, MD, PhD · Departement of Nephrology. Centre Hospitalier Universitaire. Limoges, France

• Jean Philippe Haymann, MD, PhD · Department of Functional Investigations. Assistance Publique Hôpitaux de Paris, Hôpital Tenon, Paris, France

• Ivan Tack, MD, PhD · Department of Functional Investigations. Centre Hospitalier Universitaire, Hôpital de Rangueil. Toulouse, France

• Laurence DUBOURG, MD, PhD · Department of Functional Investigations. Hospices Civils de Lyon, Hôpital Edouard Herriot. Lyon, France

Study Design

Allocation

NON_RANDOMIZED

Purpose

DIAGNOSTIC

Masking

NONE

Model

PARALLEL

Eligibility

Min Age

18 Years

Max Age

75 Years

Sex

ALL

Healthy Volunteers

Yes

Timeline & Regulatory

Start

2013-12-31

Primary Completion

2016-09-30

Completion

2016-09-30

Countries

• France

Study Locations