In Russia the boy first discovered a rare mutation


As told “MK” Director of the medical-genetic center Valery Ilyinsky, malignant hyperthermia (or hypermetabolism in muscle) is associated with a sharp increase in metabolism. This is one of the most severe complications of General anaesthesia, namely the use of halogenated volatile anesthetics or succinylcholine.

The patient’s muscles begin to shrink, oxygen consumption increases, which leads to depletion of energy reserves, rising temperatures and loss of muscle cells. Moreover, this hyperthermia is not controlled by the brain, such as the common cold, and the mercury thermometer can reach 42ยบ and above. The dead muscle cells in the bloodstream lead to the defeat of many organs, especially the kidneys. Without specialist treatment this condition in 80% of cases leads to death of the patient.

According to statistics from malignant hyperthermia (MH) dies about one in five thousand patients, there are dozens (!) people annually. It is known that ZG leads to mutation in gene RYR1. Earlier, a similar mutation has been described in the scientific literature, indicating a few patients in France and the United States . And recently, she was first discovered in Russia. Change in a gene found in 11-year-old child whose parents decided to explore it on the existing mutations before the first operation with General anesthesia.

Currently there is only one drug that can stop the malignant hyperthermia that developed in response to the use of General anesthesia, but it is not registered in our country. Therefore, genetic analysis and identification of life-threatening mutations before surgery remains the only way to avoid unfortunate consequences.

In the US, the people who carry the gene with predisposition to malignant hyperthermia, have a tattoo on your body or carry a special key chain. This is to inform anesthesiologists about the predisposition of a patient to this disease if that person gets into an emergency and is unconscious. In some countries there are registers of such families. If necessary, surgical intervention doctors use anesthesia for different medication, such as nitrous oxide.

Leave a comment

Your email address will not be published. Required fields are marked *