SNP Shot: Genomic Insights

Gitelman syndrome is a kidney condition that disrupts the normal balance of electrolytes (charged particles) in the body. This imbalance particularly affects potassium, magnesium, and calcium levels.

Typically, the signs and symptoms of Gitelman syndrome become noticeable during late childhood or adolescence. Frequent symptoms include painful muscle spasms (tetany), muscle weakness or cramps, feeling dizzy, and a strong desire for salty foods. A tingling or prickling sensation (paresthesia) is also common, often affecting the face. Some individuals may also experience significant fatigue, low blood pressure, and chondrocalcinosis, a painful joint problem. Research indicates that Gitelman syndrome might elevate the risk of a serious irregular heartbeat called ventricular arrhythmia.

The severity and specific symptoms of Gitelman syndrome can vary considerably, even within the same family. While most individuals with Gitelman syndrome experience only mild symptoms, there have been reports of affected individuals suffering from severe muscle cramps, paralysis, and impaired growth.

Inheritance:

Gitelman syndrome follows an autosomal recessive inheritance pattern. This means that a person must inherit two copies of a mutated gene (one from each parent) to develop the condition. Individuals who carry only one copy of the mutated gene are usually unaffected and do not exhibit any symptoms, but they are considered carriers.