By hyperplasia means a rapid increase in tissues or organs. In nephrology, there is such a disease as hyperplasia of the adrenal cortex. Since the organ becomes enlarged in this case, its functions also can not be changed.
Congenital adrenal hyperplasia
Adrenal glands are paired organs of the human body located in the retroperitoneal space. Their function is the production of hormones, which include aldosterone, noradrenaline, androgens, corticosteroids and others. These hormones are needed by the human body, because the function of most organs and systems depends on them. For example, corticosteroids take part in the metabolism, including the regulation of the water-salt balance, androgens are responsible for the functioning of the sexual sphere.
Under the influence of a number of factors in humans since birth, the volume of the adrenal gland can be increased. Under congenital hyperplasia of the adrenal cortex, or CGAP, mean a whole group of diseases of a hereditary nature, which pathologically changes the production of cortisol by the adrenal glands.
Manifestations of SSCI can be different - some are so heavy that they are incompatible with human life, others are almost invisible. This is due to unequal genetic mutations, depending on which there is a deficiency of different enzymes:
- 21-hydrolase.
- 11-beta-hydroxylase.
- 20,23-osmolase.
- 17-alphahydroxylase.
- 3-beta dehydrogenase.
The organs that are affected by CGNS( target organs) are also not the same. Enlarged adrenals produce a significant amount of hormones. Given the role of hormones in the body, it is easy to imagine that there can be many target organs. Congenital hyperplasia of the adrenal glands is a serious problem in pediatrics, because the consequences of the disease for a child can be very severe. Often, the disease accompanies other congenital syndromes, in particular, Cushing's syndrome.
Causes and pathogenesis of
Disease appears in a child from birth, therefore, the anomaly is placed in the prenatal period. The main prerequisite for increasing the volume of the adrenal gland is considered to be the various severe functional disorders that the pregnant woman undergoes during the gestation of the fetus. For example, experts point to the significant impact of stress, emotional overload, depression and mental stress during pregnancy, which lead to an increase in the production of cortisol.
The pathogenesis of the disease is related to the fact that the change in the production of cortisol in the child's body leads to an increase in the release of ACTH, so the adrenal cortex increases in size, the level of hormones it produces also increases.
There are three forms of congenital adrenal hyperplasia:
- Viral( simple) - affects the increase in androgens, so the size of the genital organs increases, the intensity of hair, the development of the muscular system.
- Hypertensive - causes an increase in the synthesis of androgens and corticosteroids, poorly affects the vessels of the fundus, leads to early onset of hypertension.
- Soltering - provokes an increase in the production of androgens and a shortage of other hormones, which contributes to the excess of potassium in the body, loss of moisture, weight and other serious disorders.
Symptoms of
Symptoms of congenital hyperplasia of the adrenal cortex in children are usually noticeable immediately after birth. Most often the child is born with an increased body weight. One can not help noticing the abnormal dimensions of the genital organs, for example, the penis is enlarged in boys, but the testicles can be too small. Girls almost always have large sizes of the clitoris, and the labia are capable of resembling the male scrotum in structure.
As you grow older, there are other symptoms:
- Early voice coarsening;
- Untimely appearance of hair on the genitals and on the body;
- Disproportionate with age, body weight increase;
- Acne on the skin in childhood;
- Termination of skeleton formation by age 16;
- Low growth;
- Permanent thirst;
- Numbness of the muscles;
- Memory loss;
- Psychoses;
- Late start of menstruation in girls.
In a child with a solitary form of pathology, the clinical picture is complicated by water-salt metabolism failures. This leads to vomiting, a loose stool, dehydration with all the ensuing consequences. Without treatment, this condition can provoke the death of the patient.
In adults, all signs of the disease are due to malfunction of the pituitary and hypothalamus, as well as, in fact, the adrenal glands. In women, CGAP without treatment leads to sexual dysfunction, cycle failure, infertility, development of osteoporosis. Men often have high blood pressure, muscle atrophy, diabetes mellitus. Among adults, widespread diseases of the digestive system, urinary system, disruption of the immune system, hair loss, skin diseases.
Diagnosis
You can presume the diagnosis by the characteristic external signs and clinical picture. A number of laboratory tests are mandatory, including the delivery of tests for hormones and a biochemical blood test.
The necessary hormonal studies to assess adrenal function are as follows:
- Deoxycortisol;
- Free cortisol;
- Other steroids;
- Gonadotropins( FSH, LH, etc.).
If a suspected congenital hyperplasia of the adrenal cortex in newborns is carried out a special screening test for the determination of hormones in serum and saliva. Also, if there is an irregular structure of the genitals, the infant is tested for the definition of a karyotype and a sex chromatin. Adolescents must be assigned methods of instrumental diagnosis. For example, in radiography of wrist joints, the growth of bones is outstripped in comparison with age.
An indicative method of investigation in both children and adults is ultrasound, MRI or CT of the adrenal glands, which show their increased size. Instrumental diagnostic methods are also designed to detect the degree of dysfunction of internal organs. Differential diagnosis in newborns and infants is carried out with different kinds of male hermaphroditism, in older children and in adults, VHCN is differentiated with tumors of the adrenal glands, testicles, ovaries, and also with polycystic ovaries( in girls).
Treatment of
Tactics of treatment in the vast majority of cases is reduced to the intake of certain hormonal drugs, which are selected based on the results of the tests. Hormone replacement therapy in young children includes the administration or injection of Cortisone, whereas in older children and adults, corticosteroid values are adjusted by taking Prednisolone or Dexamethasone. As the necessary values of the hormones in the blood are reached, the dosage of drugs is reduced. In addition, women are assigned estrogens, men - androgens.
Timely hormonal correction in girls helps to form correctly the reproductive organs and prevent the problem of infertility. During pregnancy, hormone intake can be reversed, which is decided individually in each case. When developing arterial hypertension is treated with special drugs in a certain dosage and combination. For children with signs of disturbance of the water-salt balance, salt intake increases.
Usually such intervention is performed not later than one year old. Hyperplasia of the adrenal gland of the nodular type is treated only by removing this organ, since partial resection quickly leads to a relapse. In the future, hormone replacement therapy is performed until the end of life.
Prevention of disease
If there are cases of congenital hyperplasia of the adrenal cortex in the family, the woman should apply to the genetics before planning pregnancy. Also, in women with this diagnosis, prenatal diagnosis of possible fetal pathology by chorion biopsy or amniotic fluid analysis to detect hormone levels is necessarily performed. An important method of preventing the disease is the exclusion of teratogenic factors during gestation - radiation, the influence of prolonged stress, nervous shocks, overstrain.