Gitelman Syndrome Flashcards
What is the primary genetic defect in Gitelman Syndrome?
A mutation in the SLC12A3 gene, leading to impaired reabsorption of sodium chloride in the distal convoluted tubule.
Defect in Chromosome 16.
What is the inheritance pattern of Gitelman Syndrome?
Autosomal recessive.
What are the classic laboratory findings in Gitelman Syndrome?
Hypokalemia, hypomagnesemia, hypochloremia, with normal to slightly elevated calcium levels, and hypocalciuria (low urinary calcium).
What metabolic disturbance is associated with Gitelman Syndrome?
Metabolic Alkalosis
What are the common clinical manifestations of Gitelman Syndrome?
Muscle weakness, fatigue, cramps, tetany, salt craving, polyuria, and occasional episodes of hypokalemic paralysis.
Chondrocalcinosis.
How does Gitelman Syndrome present on an EKG?
May show characteristic changes associated with hypokalemia, including prominent U waves and flattened T waves.
What is the first-line treatment for Gitelman Syndrome?
Oral potassium supplementation, often combined with magnesium replacement.
In severe cases of Gitelman Syndrome, what medications might be considered?
Potassium-sparing diuretics like amiloride, triamterene, or spironolactone
How do you differentiate Gitelman Syndrome from Bartter Syndrome?
Gitelman Syndrome typically presents with milder symptoms and has a milder form of hypokalemia compared to Bartter Syndrome, which affects the thick ascending limb of the loop of Henle, leading to more severe electrolyte abnormalities.
Bartter syndrome will have a normal serum magnesium.
What is the role of genetic testing in diagnosing Gitelman Syndrome?
Genetic testing can confirm the diagnosis by identifying mutations in the SLC12A3 gene.
