La Candelaria: Spain’s Unique Hospital Unveils Groundbreaking Rare Kidney Disease Discovery

The Nuestra Señora de Candelaria University Hospital, located in Tenerife and affiliated with the Ministry of Health of the Government of the Canary Islands, has contributed to the discovery of a rare hereditary condition with kidney implications.

This research was conducted by an international group of scientists from the Netherlands, France, the United States, the United Kingdom, Canada, and Spain, with La Candelaria Hospital being the sole Spanish medical facility involved.

The disease in question leads to a significant decrease of magnesium levels in the blood (hypomagnesemia) in pediatric patients, resulting in seizures and developmental delays, in addition to its association with autism spectrum disorder.

Félix Claverie, head of the Renal Tubulopathies research group at La Candelaria Hospital, remarked that this discovery was made possible through the cooperation of all collaborating teams, and he emphasised that this new rare disease is caused by mutations in a magnesium transporter channel, known as TRPM7.

The condition predominantly affects children, and its identification is crucial for diagnosing the associated diseases. It also necessitates the inclusion of the TRPM7 gene in the gene panels used for the genetic diagnosis of these conditions.

Roberto G. Pescoso, the manager of the health facility, stated that the hospital is fully committed to scientific and health research and expressed pride in the remarkable impact achieved by the Claverie group.

He further noted that there are numerous ongoing studies and expressed hope that additional findings similar to this will be reported in the future.

A new hereditary disease

Magnesium plays a vital role in several cellular and physiological processes, hence maintaining appropriate blood levels is essential.

The key areas for regulating magnesium are the intestines (which absorb magnesium from food), the kidneys (which excrete magnesium in urine), and the bones (which store magnesium), as stated by the hospital in a notice.

Over the past two decades, twenty hereditary diseases causing hypomagnesemia along with the associated genetic alterations have been identified.

Following research, it was confirmed that the mutations found in patients with this condition impair magnesium reabsorption in the kidneys, thereby leading to hypomagnesemia.

The team from Nuestra Señora de Candelaria University Hospital identified the first TRPM7 mutation in a patient suffering from hypomagnesemia. This mutation disrupts a crucial area of the channel responsible for magnesium transport.

The TRPM7 protein interacts with another protein, TRPM6, to create the channel responsible for magnesium transport.

Consequently, mutations in TRPM6 result in a similar condition, hypomagnesemia with…