Definition

What is Gitelman syndrome?

Gitelman Syndrome, which is also known by the name of Familial Hypokalemia (low blood potassium)-Hypomagnesemia (low blood magnesium), is an autosomal recessive disorder of the renal tubules in which there is development of hypomagnesemia, hypocalciuria (low urine calcium excretion), and secondary aldosteronism resulting in hypokalemia and metabolic alkalosis. This is one of the frequent inherited disorders of the renal tubules.

How common is Gitelman syndrome?

Gitelman syndrome is uncommon. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Gitelman syndrome?

Individuals affected with Gitelman Syndrome are usually above seven years of age and in majority of cases a confirmed diagnosis is not made until adulthood. Majority of affected individuals suffer from tetany usually during with fever or vomiting and diarrhea. There may also be frequent complaints of facial paresthesias. Some individuals also experience fatigue, which hampers their daily activities. Some affected individuals may also have chondrocalcinosis as a result of significant loss of magnesium from the body resulting in swelling and tenderness at the affected joints.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Gitelman syndrome?

Gitelman Syndrome is connected to inactivating mutations in SLC12A3 gene causing loss of function of Thiazide-sensitive Sodium Chloride co-transporter. Gitelman Syndrome as stated is an autosomal-recessive condition and the defective gene has to be inherited from each parent.

Risk factors

What increases my risk for Gitelman syndrome?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Gitelman syndrome diagnosed?

A diagnosis of Gitelman Syndrome can be made depending on symptoms experienced by the individual and other chemical abnormalities to include presence of hypokalemia, metabolic alkalosis, hypomagnesemia, and hypocalciuria.

How is Gitelman syndrome treated?

The mainstay of treatment of Gitelman Syndrome is dependent on the treatment of the symptoms. Apart from that, frequent monitoring is also required. The vitamins and minerals lost can be replenished.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Gitelman syndrome?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: January 30, 2018 | Last Modified: January 30, 2018

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