The Syndrome of Undine's Curse: Causes, Symptoms, Diagnosis and Treatment Characteristics
Some diseases are manifested in various legends and myths about beings who have fallen in love and accomplished a miracle for the sake of man. Sometimes these stories end sadly for both man and creature. Such a disease is the syndrome of Undine's curse. What kind of illness is it and how it manifests itself, you can understand from the old legend. Undine - a mermaid who fell in love with a man and committed self-sacrifice, becoming his companion in life.
During the engagement, the prince, who was fascinated by her beauty, vowed to love her and to her last breath to live with her. The mermaid lost her immortality after the birth of her child and began to live as an ordinary person. One day she saw a prince with a young girl and realized that he was cheating on her. She cursed him with the words: "You can breathe only in the daytime, at night you will die."
In the human brain, there are centers that regulate the activity of systems and organs, their auxiliary elements.
So, the activity of the respiratory system is regulated by the medulla oblongata, which is located between the bridge and the large opening of the occipital bone. It is a continuation of the spinal cord and looks very much like him.
Apnea - its types and features
The delay in breathing, which is apnea, is divided into several types. There are three types of apnea:
- Obstructive - occurs when there is an obstruction of air when passing through airway paths. This common abnormality occurs in 90% of people and often causes snoring at night.
- Central - has a complex mechanism of occurrence, and it is also called the curse of Undine. This condition, which in medical practice is called the classic syndrome of congenital hypoventilation.
- Mixed - a combination of these two types, but the central one occurs with injuries and diseases of the central nervous system.
Delayed breathing for 10-15 seconds with apnea within an hour is not considered a deviation. In obstructive sleep apnea, during a delay in breathing, the brain sends signals and the person wakes up. The thorax decreases, the diaphragm's work is strengthened, and it is possible to inhale. Breathing is restored for a while.
The pathogenesis of
hypoventilation syndrome The curse of Undine is a syndrome in which there are no anatomical abnormalities in the structure of the organs of the respiratory system and its center in the brain. The main factor in alveolar hypoventilation is a disruption in the functioning of the respiratory chain during sleep. It should be noted that the body of such patients is not sensitive to hypocapnia and hypoxemia.
At the central and peripheral level, the chemoreceptors that trigger the respiratory reflex become non-sensitive to carbon dioxide. The respiratory nuclei in the medulla oblongata do not respond to irritation and do not perceive the body signals, which can manifest themselves in diseases, injuries and after surgical interventions. At the peripheral level, the main structures include respiratory muscles and lung tissue.
Curse of Undine is a syndrome related to an autosomal dominant rare disease, which manifests itself in a violation of autonomous control over breathing.
History of the discovery of
What is the syndrome of the curse of Undine? Scientists for a long time could not explain its reasons. In 1962, J. Sevringhaus and R. Mitchell described the disease and found primary respiratory failure associated with disruption of the CNS pathways, which is very rare. In 2003, French geneticists discovered a gene responsible for stopping breathing. Such a gene is RNO2B.In 1978, the combination of the syndrome of Undine and Hirschsprung's disease( congenital aganglion) was called Haddad syndrome.
respiratory arrest gene This gene is located on chromosome 4 at the p12 locus. Its main role is to participate in the development of the autonomic nervous system. The Curse of Undine is a syndrome that occurs when the coding process is mutated and its repetitions are increased in the nucleotide sequence( expansion of the polyalanine tract).
Normally the number of its repetitions does not exceed 20, but the more they are, the more serious the disease. Parents are asymptomatic carriers of the premutation of this gene. The variability of these permutations is 5-10%.The Curse of Undine is a syndrome of congenital hypoventilation, which affects 1 in 200,000 newborns. Mutations of this gene occurs in 90% of patients.
Symptoms are fatigue and poor memory. In the newborn period, this is a bradycardia, which is combined with a delay in the stool. The child is on constant support with the help of the artificial ventilation system, which provides him with supplying the body with oxygen. The study of the syndrome of Undine, causes, symptoms and their treatment takes an important part in correcting the restoration of breathing at night.
Prolonged sleep does not bring relief, and chronic drowsiness causes inattention and fatigue. Lack of sleep causes headaches, which are the result of metabolic disorders( thiamine and magnesium) and hypoxia. In young children, cyanosis of the skin is observed.
The main method for diagnosis of newborns and infants is monitoring in a polysomnographic study with control of the number of episodes of apnea and its duration. At this age, children also have polyorganism disorders in the functioning of the body.
Polysomnography is carried out together with recording the work of the heart, brain activity, cardiac muscle activity and video recording of the patient's sleep. Simultaneously with recording the respiratory rhythm, the heart rate is monitored - this allows cardiorespiratory monitoring.
Diagnosis of the syndrome of Undine should be carried out during fetal development, which will allow already at this level to monitor and correct the development of respiratory failure. Laboratory tests of blood on hormones, biochemical parameters, electrolytes and other parameters are carried out. They allow you to determine the general condition and possible changes in the body.
In the medical classifier of diseases, the congenital hypoventilation syndrome has the code G - 47.35.This disease is genetic, and its treatment can not be medicated. The main methods used to stimulate the diaphragmatic nerve and diaphragm are:
- IVL as an intake and exhaust system for breathing. It is quite crude in physiological terms for the respiratory system.
- The driver of the rhythm of breathing "Mark 4".This is an American device that has a sparing effect on the body and is not very dimensional in size, not noisy.
The stories of real people suffering from this disease confirm that its treatment is expensive, and most effectively it is carried out abroad.
Respiratory pacemaker "Mark 4"
Curse of Undine is an apnea syndrome that requires external regulatory action and internal receiving devices. These devices are special electrodes that receive signals from an external device and convert them into stimulating pulses.
The electrodes( receiving devices) are injected by the surgical method, sending stimulating impulses to the diaphragmatic nerve, which causes the contraction of the diaphragm. An external device is a transmitting device with antennas that sends RF waves to the electrodes through the skin. These waves are converted into pulses, and with the contraction of the diaphragm, air is inhaled. The impulse stops and causes exhalation.
The advantage of this device is the normalization of pressure during its operation, as well as the physiologically natural breathing of the patient. When using such a device, the risk of joining diseases of the pulmonary system and airways is reduced.
This device is designed to facilitate the entry of air into the airway and its evacuation from there. With the syndrome of congenital hypoventilation, this method also requires the connection of an oxygen mask for the time of night sleep.
Artificial ventilation of the lungs
During the night sleep requires the use of an oxygen mask and an artificial respiration apparatus. The use of this method for treatment in the history of Undine's curse is the most commonly used. Its use is explained by its availability and long service life.
Not everyone knows that the syndrome of nocturnal apnea is called the syndrome of Undine's curse. Why children and adults die during sleep, it is difficult to explain. Throughout the world, this disease is considered incurable. In Russia, there are several cases where parents have achieved their goal and with the help of the mass media collected money for the treatment of their children. But for the survival of the patient, the same breathing pacemaker requires a change of antennas. These antennas are very expensive, like the device itself, and they need to be changed several times a year.
Changing the ecological situation in the country and a balanced diet will avoid the mutation of human genes. History has many evidences of the strong influence of nutrition and the environment on human development and health, as well as the state of its genetic material.