HealthDiseases and Conditions

Aplasia is a pathology capable of hitting any organ

Aplasia is a manifestation of the developmental fetus, which manifests itself in the absence of any organ, its part or parts of tissues. This pathology should be distinguished from hypoplasia, in which the organ can be in its infancy or reduced in size and devoid of normal structure.

Because of what the pathology arises

It should be noted that aplasia is a congenital disease that arises from direct exposure to the fetus or indirectly through the maternal organism of physical, chemical and biological factors. They, acting on gametes of parents or their ancestors, are capable of causing chromosomal pathologies with the absence of any organ or tissue.

By the way, the undevelopment of one organ in a fetus is almost never isolated and leads, as a rule, to the death of another organ connected with it. For example, in the absence of a ureteral bud, secondary renal aplasia occurs, and so on.

And the deadline, after which the described defects in the embryo can no longer develop, is the first month of intrauterine life.

Peculiarities of pathology formation

In the human body, there is no region in which aplasia can not be observed. This pathological condition of one of the paired organs usually causes hypertrophy of the other (aplasia of one of the endocrine glands can cause hypertrophy of the others). Thus, there is a substitution, compensation of lost functions.

Often there is a lack of part of an organ, for example, aplasia of the corpus callosum or olfactory brain (this condition is called arinencephaly), and the like. Aplasia of the tissue is most often observed on the skin of the scalp. At this point, the birth of a baby shows a defect, which usually does not exceed 5 cm in diameter. But this condition is combined, as a rule, with aplasia of the tissue located deeper, for example, in cases with non-closure of embryonic fissures (so-called dysarthia).

Pathological development of bone tissue

As in the cases described above, aplasia of bones in isolated form is extremely rare. Thus, with a similar pathology of the fibula, the limb is shortened in the patient, equinovarus deformation of the foot develops (its anterior edge is raised and the outer edge is lowered), the tibia bends, there are no calf and peroneal muscles.

In medicine, cases of aplasia of individual parts of the body are recorded , this often occurs with the limbs of a person. This can be as the absence of one or more fingers, or the entire hand or foot. There are often options for the absence of the forearm, shin, shoulder, hip with a foot or hand.

Aplasia of the skull and brain

In focal aplasia of the bones of the skull, which in medicine is also called the "final skull," it produces end-to-end defects of varying size and shape. But the periosteum (the fibrous membrane covering the bone tissue) and the skin in the place of the named defects remain. They are located most often in the parietal or frontal areas.

If the newborn has no bones of the skull, then often with them, aplasia of the brain (It is also called anencephaly). This pathology has a 100% lethal outcome. And 75% of children die still in utero, and the rest live no more than 5 days after birth.

Although the case of the birth in the United States in 1992 of a girl with a similar diagnosis is known, she lived for 2 years and 174 days. Breathing and functioning of internal organs in her body was carried out due to the preserved brainstem. But, nevertheless, the girl was periodically connected to the artificial respiration apparatus, since the resulting crises led to its stopping.

Aplasia of the uterus and vagina

Cases of underdevelopment or complete absence of the uterus, fallopian tubes and vagina are a rare pathology. Women who have it, can not become pregnant or take out the baby on their own.

The problem is usually found when reaching puberty. To the doctor, the girl receives complaints about the absence of menstruation and (in the absence of the vagina) on the impossibility of sexual activity. In this case, the patient usually has a normal physique and well developed secondary sexual characteristics.

If a patient has partial vaginal aplasia, she may complain of monthly nasal bleeding, breast engorgement and pulling pains in the lower abdomen, which are accompanied by the accumulation of menstrual flow, as the outflow of them with the named diagnosis is impossible.

This phenomenon leads to the appearance of tumorous formations - the so-called hematocolpos. As they grow in the lower abdomen there are sharp, bursting pains, and with suppuration of deposited secretions, the temperature rises, favorable conditions for sepsis are created. The patient in this case shows an urgent operation.

In the absence of the uterus, tumors are not formed, since there is no organ that emits blood.

Aplasia is not always a death sentence

The effect on the human body of aplasia of various organs, tissues or parts of the body is different. Some types of aplasia (absence of hemispheres of the brain, heart muscle, both kidneys, etc.) are incompatible with life. Others can cause severe disruption of the functioning of the body, and without surgical intervention lead to the death of the patient (diaphragmatic hernia or Hirschsprung's disease).

But the absence of part or all of the limb, as well as aplasia of the uterus, are completely compatible with life. And the undevelopment of one paired organ, for example, with unilateral renal aplasia, is sometimes completely compensated by hypertrophy of the other, and due to this it can not be clinically manifested during the whole life of the patient.

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