Learn About Gitelman Syndrome

What is the definition of Gitelman Syndrome?

Gitelman syndrome is a kidney disorder that causes an imbalance of charged atoms (ions) in the body, including ions of potassium, magnesium, and calcium.

What are the causes of Gitelman Syndrome?

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.

How prevalent is Gitelman Syndrome?

Gitelman syndrome affects an estimated 1 in 40,000 people worldwide.

Is Gitelman Syndrome an inherited disorder?

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.

Who are the top Gitelman Syndrome Local Doctors?
Internal Medicine
Internal Medicine

Adventist Health System Georgia Inc

1035 Red Bud Rd Ne, 
Calhoun, GA 
 9.8 mi
Accepting New Patients

Maxwell Parrott is an Internal Medicine provider in Calhoun, Georgia. Dr. Parrott and is rated as an Advanced provider by MediFind in the treatment of Gitelman Syndrome. His top areas of expertise are Familial Hypertension, Glucocorticoid-Remediable Aldosteronism, Hypertension, and Heart Failure with Preserved Ejection Fraction (HFpEF). Dr. Parrott is currently accepting new patients.

Family Medicine
Family Medicine

Adventist Health System Georgia Inc

109 Hospital Dr, 
Calhoun, GA 
 9.7 mi

Robert Lester is a Family Medicine provider in Calhoun, Georgia. Dr. Lester and is rated as an Experienced provider by MediFind in the treatment of Gitelman Syndrome. His top areas of expertise are Macroamylasemia, Hypothyroidism, Glucocorticoid-Remediable Aldosteronism, and Familial Hypertension.

 
 
 
 
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Adventist Health System Georgia Inc

109 Hospital Dr, 
Calhoun, GA 
 9.7 mi
Accepting New Patients

Christopher Yamamoto is a Family Medicine provider in Calhoun, Georgia. Dr. Yamamoto and is rated as an Experienced provider by MediFind in the treatment of Gitelman Syndrome. His top areas of expertise are Hypercalcemia, Familial Hypocalciuric Hypercalcemia Type 1, Idiopathic Hypercalciuria, and Milk-Alkali Syndrome. Dr. Yamamoto is currently accepting new patients.

What are the latest Gitelman Syndrome Clinical Trials?
National Registry of Rare Kidney Diseases (RaDaR)

Summary: The goal of this National Registry is to is to collect information from patients with rare kidney diseases, so that it that can be used for research. The purpose of this research is to: * Develop Clinical Guidelines for specific rare kidney diseases. These are written recommendations on how to diagnose and treat a medical condition. * Audit treatments and outcomes. An audit makes checks to see if ...

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Published Date: February 01, 2011
Published By: National Institutes of Health