According to European Union, a disease when affects fewer than 1 in 2,000 people, it is defined as “rare disease”. 72% of known rare diseases occur due to genetics. What remains are formed the result of infections (bacterial or viral), allergies, and environmental causes. The incidence of rare diseases especially in our country (Turkey) is much higher than other countries. The most common reason for this may be common consanguineous marriages. Treatment of many of these diseases caused by genetic problems is not available today. For RaDiChal 2020, three rare diseases exist such as glycogen storage disease, friedreich’s ataxia and spinal muscular atrophy.
Familial Mediterranean Fever
It is an hereditary disease that is revealed by pains in the abdomen, lungs and joints with recurrent high fever. Familial Mediterranean fever disease, which is caused by inflamed attacks triggered by the body by the body for genetic reasons, is defined as an autoinflammatory disease. In short, due to hereditary gene mutation, an unsericable inflammatory condition occurs and the immune system cannot deal with it. Amyloidosis, which is also seen with the disease, can cause damage to organs by causing protein to accumulate outside the tissues. Family Mediterranean fever is usually diagnosed in childhood. There is no definitive cure for the disease and complaints can take on a lifesize. However, thanks to the herbal drug “Colchicine”, which was developed in the 1970s, fever and pain attacks can be controlled and prevented in a very large way. Patients can live their lives healthy in a way that attacks are very few and at least violent or not at all.In order to treat the disease effectively, it is necessary to start using drugs by diagnosing it early. For this, people with recurrent ad-onstiation need to be closely monitored, otherwise there may be delays in diagnosis. Diagnosis, treatment and follow-up of the disease is carried out by the Rheumatologist.
Early diagnosis of Family Mediterranean Fever, a common health problem in our country, is important for preventing harms and life-threatening risks by start treatment at the right time.Mediterranean fever is a genetic disease and has a high incidence in our country. Jews, Armenians, Arabs, Italians, Greeks and Turks living in the Mediterranean basin are the most common ethnic groups of the disease. However, today it is seen in other countries. It is known that there are 10,000 Mediterranean fever patients worldwide. The disease is transmitted through the timid gene. His parents can be seen in children with this gene mutation. Only one parent carrier and the other healthy children do not give symptoms of the disease.The gene responsible for the disease was identified in 1997, and today the disease is defined as disruption of the organism’s response to inflammation as a result of mutations in the MEFV gene. Mutation in the MEFV gene prevents suppression of inflammation in the body. However, the physiological effects that started the attack are not clear.
Cystic fibrosis (CF) is an hereditary disease that affects mucus and sweat
glands in the respiratory system, digestive system and reproductive system from birth. Cystic Fibrosis in particular significantly affects the function of the lungs, pancreas, liver, intestines, sinues and genitals. In people with this disease, the mukus in the body thicken and become sticky. In this case, it causes the person to have difficulty breathing and increases the likelihood of developing a serious lung infection.The disease also affects the pancreas, where enzymes necessary for the digestion of nutrients are secreted, preventing the release of these enzymes.When digestive enzymes cannot reach the small intestines, food cannot be properly disintegrated and nutrients are not absorbed. People with cystic fibrosis may have complaining of nutritional disorders, abdominal pain and severe constipation.It also causes excessive loss of salt through sweating of the body, which can lead to excessive fluid loss, heat stroke, fatigue, low blood pressure and heart conditions. Again, people with this disease may be more likely to develop diabetes, osteoporosis and infertility.
Cystic fibrosis (CF) is the most common genetic disease of the white race in the world. Cystic fibrosis is an hereditary disease caused by gene mutation. There is a 25% chance that children of men and women who are not sick because the disease is transferred by timid genes, but who carry the disease genes. The CF
gene is found in the 7th chromosome. The most common gene change (mutation) that leads to disease in this gene is Delta F508.This mutation is seen 70-80% frequently in western countries and 20-30% in our country. Since the diversity of mutations seen in our country is very great, mutations cannot be detected in the screening tests available in a significant number of our patients. Considering that there are 1903 mutations described so far, genetic research in our patients can unfortunately become a laborious process. In case of disease in the child, both parents must be carriers in terms of the disease. If only one of the parents has a mutation, the child will not be sick.
Epidermolyis bulloza (EB), or butterfly disease (lupus) as it is popularly known; it is a disease in the congenital and heterogeneous group that occurs as a result of mutations in structural proteins found in the skin. In rare butterfly disease; tulle (water-filled blisters) appear in the leg, arm, hand, foot, eye, hips, oral, airway, esophagus, genital and anal areas. The tulle formed on the skin and mucous memma usually occurs as a result of applying pressure or multiplying the area. Even a slight contact is enough for the formation of pheasants. Butterfly disease, a genetic disease characterized by fragile skin, can lead to infections and wounds in the body. This disease, which occurs after birth or the first year of life, usually develops genetically. Water-filled blisters seen in various parts of the body such as hands, feet, legs, esophagus, orals are the most obvious findings of butterfly disease. Children born with this disease are also called “butterfly children”, since their skin is as fragile as the wings of a butterfly. Butterfly disease, which is one of the hereditary diseases, is not known exactly the cause and there is no definitive treatment. But there are many points that the patient and his family should pay attention to, both to reduce pain and to prevent the protection of blisters from infection. Depending on the level of dehydling in the skin layers and where the blisters form, butterfly disease is divided into three main groups.
-Epidermolysis Bullosa Simplex
-Epidermolysis Bullosa Junctional
-Dystrophic Epidermolysis Bulloza
Butterfly disease occurs the same often in all races and genders. The cause of
the occurrence of butterfly disease, which is a genetic disease, is not known for sure.It arises from the presence of the defective nasal, which is hereditary from the mother or father, and passes to the child.In the rare species of Epidermolysis Bullosa Aquisita, butterfly disease is not genetic and occurs due to the immune system.According to some theories, the formation of abnormal proteins that cause the disease is considered susceptible to changes in heat temperature.
Glycogen Storage Disease
GSD Tip 1a affects an estimated 6,000 patients worldwide, caused by a defective gene for the glucose-6-phosphatase-α (G6Pase-α) enzyme, which controls the release of sugar in the liver. Its frequency is 1/100 000 and autosomal recessive is left. G6Pase deficiency in the endoplasmic reticulum lumen, which provides hydrolysis of G6P to glucose and phosphate, causes glycogen storage disease type 1a (GDH 1a). GSD type1 is associated with abnormalities (mutations) in the G6PC gene (GSDIA) or SLC37A4 gene (GSDIB). Lipid affects carbohydrate and purine metabolism. Rare and deadly genetic liver disorder, GSD type 1a affects children from infancy to adulthood, causing dangerously low blood sugar levels and constant dependence on glucose consumption in the form of corn starch every few hours to survive. If the cornstarch dose is missed, the disease causes seizures and deaths.
Friedreich’s ataxia is an autosomal recessive disease with a wide range of symptoms, ranging from gait disturbance to speech problems, causing progressive damage to the nervous system. It can lead to heart disease and diabetes, but does not affect the ability to think. Friedreich’s ataxia is a disease caused by an abnormality in a gene called X25 located on the 9th chromosome pair. Genes are information packets that are encoded on chromosomes within cells, provide the cells with the information they need to produce the proteins they need to carry out their vital functions, and ensure that life goes on and passed through generations
Spinal Muscular Atrophy
SMA (Spinal Muscular Atrophy) is a muscle disease that affects the anterior horn motor nerve cells in the spinal cord, restricting its mobility and controlling our muscles, unable to produce the protein required for the function of the nerves. The eyesight and hearing senses of individuals with SMA are not affected by the disease. Intelligence; normal or above normal. The incidence across the world 1 / 10,000 and 1 / 6,000 in Turkey. SMA diagnosis is made as a 95% deletion diagnosis with DNA test result. The remaining 5% defect may develop as other damaging mutations. Spinal Muscular Atrophy (SMA) is caused by mutations in the SMN1 (motor neuron 1 survival) gene, which produces the SMN (motor neuron survival) protein. Three or more copies of SMN2 (motor neuron 2 survival) can cause a lighter SMA subtype