Common Symptoms Of Gitelman Syndrome

Gitelman syndrome is a genetically precipitated disorder that causes functional kidney defects. This condition causes alterations in several concentrations of electrolytes and abnormalities in extracellular fluid volume. This syndrome is considered to be a salt-wasting nephropathy that affects sodium, calcium, chloride, potassium, and magnesium in an individual's body. The cause of Gitelman syndrome is a mutation or alteration in the code on an individual's SLC12A3 gene inherited from a family member in an autosomal recessive fashion. Unlike other salt-wasting nephropathies, Gitelman syndrome is diagnosed through laboratory test findings rather than the symptoms an individual is experiencing.

Symptoms can vary from mild to severe and may differ greatly from one affected individual to the next. With this in mind, look at some of the common ones now.

Low Potassium And Magnesium

Gitelman syndrome patients may have low potassium and magnesium. The mutations in affected individuals cause disruptions in sodium reabsorption that should occur in the distal convoluted tubule. Because this is the last stop before reaching the collecting duct, the excess sodium continues to become part of rine. This malfunction pulls increased volumes of fluid into the urine, lowering blood volume. Blood pressure begins to fall, and the angiotensin-aldosterone system is activated and causes an elevation in aldosterone. Elevated aldosterone stimulates sodium reabsorption in the cortical collecting duct as a backup mechanism of maintaining homeostasis. This mechanism results in increased potassium and hydrogen ion secretion through the urine, and a decrease in the protein or channel required for proper reabsorption of magnesium. Potassium is an electrolyte critical to proper nerve signaling and muscle contractions, while magnesium is an electrolyte critical to metabolism and protein synthesis. Low potassium and magnesium can be detected through a blood test and cause adverse symptoms like irregular heartbeat and muscle cramps.

Keep reading to learn about another mineral Gitelman syndrome patients may not have much of next.

Decreased Calcium In Urine

Individuals with Gitelman syndrome may experience decreased calcium in their urine. A normal amount of calcium that should be detected in a healthy individual's urine is between one and three hundred milligrams per day. Gitelman syndrome patients do not typically yield over forty milligrams per day. Increased levels of aldosterone caused by the body's reaction to low blood volume precipitated from salt-wasting initiates the depletion of a critical protein called TRPM6. This specific protein facilitates the reabsorption of magnesium in the kidney tubules, resulting in low magnesium in the blood. Magnesium is needed for the release of parathyroid hormone, and low magnesium can induce kidney and bone resistance to parathyroid hormone. Parathyroid hormone regulates the amount of calcium in an individual's blood through the management of secretion through the urine, pulling calcium from bones, and increasing calcium absorption from the diet. Therefore, an overall reduction in the effectiveness and release of parathyroid hormone results in less calcium being secreted through the urine.

Learn about how the muscles can mean an individual may have Gitelman syndrome now.

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.

Uncover the details on a craving that could indicate an individual has Gitelman syndrome now.

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.

Continue reading to learn more about the common symptoms linked to Gitelman syndrome now.

Extreme Fatigue Or Irritability

Extreme fatigue and irritability are thought to be associated with decreased levels of magnesium that result from salt-wasting in Gitelman syndrome patients. Magnesium has a pivotal role in the production and activation of ATP or usable cellular energy. Fat and glucose are taken from the diet and metabolized in the mitochondria of the cell into carbon dioxide, water, and ATP. ATP is required for cells to perform their respective functions, allowing all of the organs and organ systems in the body to work effectively. A reduction in ATP due to magnesium deficiency causes the body to redistribute the cellular energy it does have to the cells that contribute the most to vital functions. Vital functions do not include certain muscles and other tissues in the limbs. This energy redistribution presents in an affected individual as fatigue and weakness.

Irritability occurs from effects magnesium deficiency has on the nerves and impulse transmissions. Nerves in the brain can become overstimulated because magnesium is not present to mediate calcium. Impulses fire excessively, and vasoconstriction occurs in the absence of calcium regulation by magnesium. These mechanisms produce painful sensations in the brain that manifest as a headache that compounds with fatigue and other symptoms to cause irritability.