Common Symptoms Of Gitelman Syndrome

Severe Muscle Cramps

Gitelman syndrome can cause an individual to experience severe muscle cramps. The process behind this symptom is associated with the magnesium deficiency that results from Gitelman syndrome. Reduced abundance of TRPM6 protein causes the kidneys to be unable to reabsorb magnesium, discarding it through the urine instead. Magnesium is critical for healthy neuromuscular function because it blocks calcium ions. Calcium ions in the muscles attach to proteins called myosin and troponin C. This mechanism alters the shape of these proteins, producing a muscle contraction.

When magnesium is present, it competes to attach to the same binding sites on troponin C and myosin to induce muscle relaxation. Magnesium decreases the output of a substance called acetylcholine from the endings of the nerves. Acetylcholine is a neurotransmitter responsible for initiating muscle contractions. A muscle cramp occurs when a muscle contracts too much, does not relax, and causes pain. Calcium is allowed to bind to the sites on multiple proteins, and acetylcholine goes unregulated in conditions of inadequate magnesium. The muscles become overstimulated and fail to relax appropriately, resulting in severe muscle cramps.

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Salt Cravings

An individual who has salt cravings may be affected by Gitelman syndrome. The kidneys contain small structures called nephrons, which are responsible for filtering blood. Over 180 liters pass through the nephrons every day, and most contents are reabsorbed and sent back into blood circulation. Concentration gradients determine the passive reabsorption and secretion of most contents, but water and specific solutes are tightly managed through complex mechanisms. A critical component of one of these mechanisms is the human sodium chloride cotransporters in certain parts of the distal convoluted tubule.

Gitelman syndrome is caused by a genetic mutation that alters the encoded instructions for how to produce human sodium chloride transporters. These transporters are unable to work properly, causing the patient to be unable to reabsorb sodium before it is excreted through urine. Sodium pulls an increased volume of fluid into the urine with it, causing the affected individual to excrete more fluid than normal. This malfunction results in dehydration, which prompts the brain to induce salt cravings in an attempt to increase fluid intake and retention.

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