Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium.
Gitelman syndrome is usually caused by mutations in the SLC12A3 gene. Less often, the condition results from mutations in the CLCNKB gene. The proteins produced from these genes are involved in the kidneys' reabsorption of salt (sodium chloride or NaCl) from urine back into the bloodstream. Mutations in either gene impair the kidneys' ability to reabsorb salt, leading to the loss of excess salt in the urine (salt wasting). Abnormalities of salt transport also affect the reabsorption of other ions, including ions of potassium, magnesium, and calcium. The resulting imbalance of ions in the body underlies the major features of Gitelman syndrome.
Gitelman syndrome affects an estimated 1 in 40,000 people worldwide.
This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Sung-sen Yang practices in Taiwan. Yang is rated as an Elite expert by MediFind in the treatment of Gitelman Syndrome. They are also highly rated in 20 other conditions, according to our data. Their top areas of expertise are Gitelman Syndrome, Hypokalemic Periodic Paralysis, Familial Periodic Paralysis, and Low Potassium Level.
Kandai Nozu practices in Kobe City, Japan. Nozu is rated as an Elite expert by MediFind in the treatment of Gitelman Syndrome. They are also highly rated in 63 other conditions, according to our data. Their top areas of expertise are Alport Syndrome, Gitelman Syndrome, Nephrotic Syndrome, Kidney Transplant, and Ileostomy.
Anne Blanchard practices in Paris, France. Blanchard is rated as an Elite expert by MediFind in the treatment of Gitelman Syndrome. She is also highly rated in 16 other conditions, according to our data. Her top areas of expertise are Gitelman Syndrome, Bartter Syndrome, Magnesium Deficiency, and Low Potassium Level.
Summary: The purpose of this study is to determine the effect of salt (NaCl) supplementation on serum potassium and clinical signs and symptoms in patients with Gitelman syndrome.
Published Date: February 01, 2011Published By: National Institutes of Health