New kidney disease discovered by accident

Magnesium is an essential mineral for every cell. It is a cofactor in several enzymatic reactions, including those that affect energy metabolism, as well as DNA and protein synthesis. And it is involved in the regulation of ion channels. Magnesium homeostasis is therefore fundamental to the existence of life. It is generally assumed that magnesium deficits mainly lead to calf cramps. What is less well known, however, is that magnesium deficiency can lead to severe cardiac arrhythmias and kidney disease in humans. Recently, scientists found a link between chronic convulsions, magnesium deficiency, family ties, and renal tubulopathy.

Inherited muscle cramps …

The connection between magnesium and the kidney is diverse. Magnesium homeostasis is not only regulated by intestinal absorption, but also by the reabsorption of magnesium from the primary urine into the kidneys. Of about 2400 mg of ultrafiltered magnesium daily, “95-99%” must be absorbed by the nephrons. And of course, absorption and metabolic disorders can occur, which lead to a lack of magnesium in the body. And this could be signaled by conditions like osteoporosis, irregular heartbeat, high blood pressure, asthma, muscle contractions and cramps, fatigue and muscle weakness.

Only some of these disorders would not always be due to a deficiency in our magnesium diet, but rather to a genetic problem. At least this is what the current study by American and European researchers, published in the Journal of the American Society of Nephrology, says. In recent decades, advances in genetic engineering have made it possible to identify rare hereditary diseases of renal magnesium and salt manipulation. But according to the researchers, a new disease phenotype includes “tubulopathy with severe hypokalemia, molten renal salts, impaired acid-base homeostasis, and sensory neuropathy”.

A disease discovered by chance

This “new” disease, called “autosomal dominant renal hypomagnesaemia”, is essentially genetic and hereditary. And it would be this disease that would lead to “excessive loss of magnesium in the urine”, that is, magnesium deficiency and signs of chronic complaints such as muscle cramps, tetany and muscle fatigue. These last signs led to the discovery of the mutated gene that is responsible for the disease. In Belgium, it was a grandfather and granddaughter who complained of the same pain from “muscle spasms” that led to this discovery. The fact that pain is reported almost equally in different generations of the same family has enabled geneticists to move forward in their research.

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