28 diseases - Type 1 diabetes mellitus

DNA test for genetic predisposition to type 1 diabetes mellitus

Type 1 diabetes mellitus— is one of the most urgent problems of pediatric and adolescent endocrinology. Disease requires radical revision of lifestyle, serious material costs (in some countries, compensated by the state) and constant doctor attention for prevention of dangerous complications.

Warn yourself from diseases
Type 1 diabetes mellitus

The main sign of disease is hyperglycemia — increased blood sugar, detected by means of a laboratory method. Disease development mechanism is connected with a low level of insulin - a hormone that regulates carbohydrate metabolism. Disturbance of metabolism leads to collapse of functioning of all body systems, therefore, without adequate medical correction; patient will have serious complications and rapid death threaten. However, a constant, correctly selected treatment in most cases allows patients to live a productive life and feel well.

Extension of type 1 diabetes mellitus is relatively small: this disease affects only about 0.1-0.2% of the world population. However, that very fact that disease is found out, as a rule, in childhood and often leads to disability, speaks about the special importance of the problem: type 1 diabetes mellitus is an object of active clinical and genetic research.
Development mechanism

Disease develops as a result of damage of beta cells — special endocrine structures located in the pancreas and responsible for secretion of the most important insulin hormone. Insulin is an important regulator of metabolic body processes, notably, its effect affects not only carbohydrates, but also fats, proteins and trace substances. The main effect of insulin is activation of absorption of sugar by body tissues.

This is achieved by the following mechanisms:

glucose intake inside cells is increased;

formation of glycogen, which is a reservoir of glucose in the liver and muscles, is stimulated;

cleavage of glycogen and fat is blocked.

In case of type 1 diabetes mellitus, there is insulin deficiency which is caused by destruction of beta cells. There is true insulin deficiency with corresponding pathophysiological effects.

The most common reason of beta cells damage is autoimmune processes, herewith for a number of reasons, immune cells attack the body's own tissues and destroy insulin producing areas of the pancreas. Sometimes it's impossible to detect antibodies to beta-cells in patients - in this case, diabetes mellitus is called idiopathic (that is, with an unidentified reason). The idiopathic form of diabetes mellitus is most often diagnosed in people of Asian and African descent and has a well-defined hereditary character.

The patients with type 1 diabetes mellitus's body state can be described as "starving in conditions of superfluity": a lot of sugar circulates in blood, but it can not be absorbed by body tissues without the participation of insulin.

Reasons of disease development

An exact reason has not yet been established: type 1 diabetes mellitus refers to polyethiologic diseases with a well-defined genetic component.

Possible factors of importance in the origin of the disease are:

inherited predisposition;
virus (cytomegala virus, rubeola etc.);
toxic substance (some pharmaceuticals, household chemicals);
a number of pancreatic diseases (pancreatitis, trauma, swelling, etc.).

It is supposed that provoking factors can also be considered psychoemotional stress, bacterial infection, fever, intolerability of certain foods, excessive ultraviolet radiation.

Genetic predisposition to type 1 diabetes mellitus

Observation statistics notes the value of the genetic factor in the development of the disease: risk of development type 1 diabetes mellitus for people who have one of the closest relatives (mother, father, siblings) with this disease, reaches 6-7%. In this case, if both parents has this disease, risk of disease for their children rises up to 34%. The same dependence is even more indicative for twins: if one of the identical twins is diagnosed with type 1 diabetes mellitus, risk of disease for another one increases up to 40%.

The most studied mechanism of genetic predisposition to the autoimmune form of type 1 diabetes mellitus is the encoding of HLA - histocompatibility immune system.

HLA system in the genotype is represented as a number of genes responsible for recognition of foreign proteins, as well as activity of immune bodies and enzymes involved in the process of neutralizing antigens and damaged cells of the body.

In the origin of idiopathic type 1 diabetes mellitus, the genes encoding activity of insulin itself or functioning of pancreatic beta cells.

Symptoms of disease

In absolutely majority of cases, type 1 diabetes mellitus is diagnosed in children or adolescents. With the gradual onset, the disease manifests itself by the following symptoms stipulated by high blood sugar:

  • 1

    Unreasonable thirst.

  • 2

    High volume of daily urine.

  • 3

    Weighting loss with good appetite.

  • 4

    Dry mouth.

  • 5

    Skin and mucous tunic itching.

  • 6

    Fatigue, weakness.

In 1/3 of patients, disease manifests an acute critical condition, which can end as a coma with depression and loss of consciousness. Such condition requires emergency medical care. Coma can be caused by a sharp rise of glucose in blood, as well as accumulation of toxic metabolites - lactates or ketone bodies. Hereafter, hypoglycemic coma is possible in case of inadequate selection of insulin dose - critical condition due to excessively low blood glucose levels.

Disease progression leads to defeat of other organs with the following manifestations:

  • reduction in vision until complete loss - a consequence of diabetic retinopathy;

  • abnormality of limbs (sleep, tingling, burning sensation) as a sign of neuropathy;

  • nephredema — a sign of nephropathy;

  • increase in arterial blood pressure;

  • shortness of breath, headache, cardiodynia — consequence of renal failure and cardiac pathology.

In addition to mentioned above complications, patients with long-term decompensated condition often suffer from trophic disorders with formation of ulcers on the lower limbs, they have a higher risk of developing of a stroke, a heart attack, atherosclerosis of large and small vessels, chronic inflammatory diseases of genitourinary system.

Type 1 diabetes mellitus treatment diagnosis

If diabetes mellitus is supposed, it's necessary to consult an endocrinologist who will prescribe a test and determine the cause of the patient's anxiety symptoms.

Testing of glucose level in blood
— basis of diagnosis of disease.

Glucose tolerance test
— is used for detection of preclinical metabolic disorders.

Urinary test for sugar.

Common blood and urine test, biochemical blood test, determination of blood lipids
— conducted to assess the general condition and identify diabetic complications.

Hormonal research
— may be required to exclude diabetes insipid us and other similar illnesses in the clinic.

— are necessary for differential diagnosis.

Consultations of an ophthalmologist, neurologist.

Immune test
— is used for early diagnosis of the preclinical phase of disease.

Take the DNA test
Check yourself and your family!

Every year a diagnosis of type 1 diabetes mellitus is established for thousands of children whose life and health directly depends on the timeliness of the beginning of medicamentous correction.

Take the DNA test on the genetic predisposition to type 1 diabetes mellitus: make preventive measures effective, and treatment as early as possible.

Disease course

Disease usually develops gradually: starting with barely noticeable symptoms and further up to prominent signs of hyperglycemia. Even before the first signs of disease in the patient's blood, specific antibodies to beta-cells of the pancreas are detected: the autoimmune process begins to destroy insulin-secreting cells, but compensatory strategy can keep the balance long enough.

The disturbance of glycometabolism is initially poorly expressed and does not make itself known, however, laboratory tests can help with early diagnosis of impending disease. For this purpose, a test with a sugar load is performed, it reveals a violation of glucose tolerance. If there were found any abnormalitiesin during this study, the patient is prescribed to have treatment based on non-pharmacological methods - nutritional care, lifestyle correction, restorative procedures, etc.

Early treatment can significantly delay the manifestation of the disease and prevent dangerous complications.

Up to the time of clinically pronounced disease, death of beta-cells exceeds 80% of their original number. Properly selected insulin therapy and timely detection of the first signs of the pathology associated with diabetes (nephropathy, retinopathy, atherosclerosis, neuropathy) make it possible to maintain the patient's health and well-being at the proper level.

Unfavorable course of type 1 diabetes mellitus leads to a complete loss of insulin secretion. At this stage, the possibility of correction of disease may be decreased, that leads to decompensation of the disease.

Type 1 diabetes mellitus treatment

If a child has type 1 diabetes mellitus, treatment should be started immediately: any delay is fraught with dangerous critical conditions and development of progressive kidney, eyes, blood vessels and the nervous system damage.

Insulin therapy

The basis of treatment is insulin therapy — an administration of insulin preparations according to a clearly defined scheme. The patient and his parents (if the patient is a child) have to undergo special training, during which they will learn properly build their daily routine and food ration, calculate insulin dose, adjust it depending on load, monitor blood sugar levels. «Diabetes mellitus is a way of life!» — this is what is taught about during training courses for patients, emphasizing the importance of all the above activities and an opportunity to live a full life at the same time.

Insulin therapy usually includes two components: fast-release drug and basic (background) insulin. The dose of basic drug is usually chosen by the doctor; while fast-release insulin is administered several times a day before meals and overnight, and the dose is calculated taking into account physical activity and food ration. Monitoring of condition is carried out through regular measurement of glucose level with the help of portable glucometers, for administration of insulin it's used compact injectors - syringes, PFSs and other devices for dispensing and administering drug. In most cases, responsible patients quickly settle down to a new lifestyle and can control disease with minimal involvement of an endocrinologist.

Food ration

Food that is recommended for type 1 diabetes mellitus is different (compared with type 2 diabetes mellitus) by leeway.

Basic food ration rules:
  • exclusion of sugar and other "fast" refined carbohydrates;

  • consumption of carbohydrates in the form of cereals, grains, vegetables should correspond to general average standards;

  • correction of dose of fast-release insulin is carried out according to the number of eaten "bread units" (conventional carbohydrates units, calculated according to the table);

  • correlation of carbohydrates, proteins and fats in food ration should be approximately equal to 60:20:20;

  • reduction of animal fats consumption, inclusion of vegetable fats and fatty fish in food ration.

Physical activity

Physical activity is an important component of maintaining the patient's well-being and a factor preventing atherosclerotic complications. A special feature of physical activity in type 1 diabetes mellitus is necessity to follow up glucose, which is spent during training, to correct dose of fast-release insulin. If this requirement is ignored, hypoglycemia inevitably arises (lowering of blood sugar level below the threshold value) with deterioration and coma risk.


Preventive measures include:

healthy lifestyle;
proper diet;
timely detection and treatment of viral, bacterial and other diseases.

Unfortunately, the factor of hereditary predisposition can not be eliminated at all, but modern technologies make it possible to determine the genetic basis of the disease in order to accurately detect the early, preclinical symptoms of disease and to prevent serious disruption of the internal organs.

Your future in your hands!

DNA test is a unique method for detecting a genetic predisposition to type 1 diabetes mellitus. Basing on data obtained, the specialist will be able to make an individual plan for the most effective preventive and diagnostic measures.

Do not wait for symptoms of disease. Take the DNA test and start preventive measures as soon as possible!