Aplasia (agenesis) of the kidney: causes, symptoms, and treatment characteristics

Without excretory system it is impossible to imagine the work of the human body. One of its components are the kidneys. This is a paired organ, the main task of which is to remove the liquid and water-soluble elements. He also takes a direct part in the metabolism and regulation of the acid-base balance. In the body of an absolutely healthy person there are both kidneys. 2.5% of newborns have defects. And although rare, but there is an abnormal absence of the kidney.

What is aplasia (agenesis) of the kidney?

Causes, symptoms and methods of treating such rare diseases will be discussed below. First we need to understand what these terms mean by themselves.

In various medical reference books one can find a confusion of the two concepts "aplasia" and "agenesis". Is there a difference between them? Agenesis is the total absence of one or both of the kidneys. This pathology is inherent in nature. On the site of the missing organ, there is not even a rudiment of the kidney tissue. Aplasia is a phenomenon in which only the cord from the connective tissue remains in the retroperitoneal cavity. In other words, it is an underdeveloped kidney, unable to perform its function.

In clinical practice it does not matter which form of the disease is found in the child. In both cases, a full-fledged organ is absent. Uniform statistics of diseases are also not presented. It is known that renal anomalies constitute about 7-11% of all pathologies of the genitourinary system.

Historical reference

Aging of the kidney has been known to mankind since ancient times. About this disease in his writings mentioned even Aristotle. He argued that if the animal can not exist without a heart, then it is completely without a kidney or a spleen. In the Renaissance, this problem interested the scientist from Belgium Andreas Vesalius. In 1928, the Soviet physician Sokolov began to identify its prevalence among the population. Since then, scientists have identified several forms of aplasia (agenesia), each of which has its own clinical picture and prognosis.

Types of Agenesia

There are several classifications of this pathology. The main distinguishes the disease by the number of organs.

1. Right-sided renal agenesis (code on ICD-10 is Q60.0). This form of the disorder is most often diagnosed in women. Usually, the right kidney is especially vulnerable from birth. It is located below the left and is considered less mobile. In most cases, all functions are taken over by the paired organ, and the person thus does not experience any special discomfort.
2. Left sided agenesis of the kidney. This form of pathology is rare and is very difficult to tolerate. The right kidney is less functional. It is not adapted to compensatory work.

Separately, it is worth considering bilateral agenesia. This type of illness is characterized by the absence of two organs at the same time. With him, babies rarely survive. After birth, they immediately need an operation for transplantation. Which has bilateral renal agenesis code? ICD-10 includes this pathology under the code Q60.1.

Forms of aplasia

This renal anomaly is only one-sided. The pathological process can only extend to the right or left organ. In this case, the kidney is usually represented by a fibrous tissue in its embryonic form, but without the pelvis, ducts and glomeruli.

Causes of the disorder

There is no consensus on the causes of renal agenesis in newborn infants. Physicians express different points of view. Some see the connection between pathology and genetic predisposition. Others deny this fact.

Long-term study of the disease and numerous studies have made it possible to identify several factors, the presence of which increases the likelihood of its occurrence. Aplasia or renal agenesis in the fetus is possible in the following cases:

1. Chronic alcoholism, drinking alcohol during pregnancy.
2. Diabetes mellitus in the future childbirth.
3. Postponed viral / infectious diseases in the first trimester.
4. Uncontrolled use of drugs by a woman for 9 months.

The kidneys begin to form in the fetus from the 5th week of his life in the womb. This process continues throughout pregnancy. However, the 1st and 2nd trimesters are considered to be the most dangerous. At this time, the probability of developing pathology, under the condition of adverse factors, is quite high.

General clinical picture

Aplasia or renal agenesis may not manifest itself for a very long time. Some mothers do not go for ultrasound during pregnancy, and after the appearance of the baby, they neglect the analysis. As a result, people do not even know about the existing health problems. He learns about the unpleasant diagnosis years later. Typically, during a preventive examination at school or when hiring. In this case, a healthy kidney takes up to 75% of the functions of the missing or poorly functioning organ. Therefore, a person does not feel any discomfort.

Sometimes the kidney anomaly begins to manifest in the child in the first days of life. Among the main symptoms of pathology doctors distinguish:

• Various facial malformations (puffiness, broad and flat nose);
• A large number of wrinkles on the body;
• Three-dimensional abdomen;
• Low position of the auricles;
• Deformities of the lower extremities;
• Displacement of some internal organs.

When the renal agenesis in a child is diagnosed, the ailment is usually accompanied by anomalies in the development of the genital organs. For example, in girls there is a bicornic uterus, vaginal atresia. In boys, there is no vas deferens. In the future, such problems can be complicated by impotence and even infertility.

Methods of diagnosis

An adult is always given a disability in the diagnosis of "kidney agenesis". However, first you need to undergo a comprehensive examination. At the time of it, the doctor collects the patient's anamnesis, studies his hereditary predisposition. To confirm the preliminary diagnosis, additional research methods may be required:

• Ultrasound.
• Urography with contrast medium;
• Renal angiography;
• CT.

To determine the absence or underdevelopment of the kidneys in the fetus is possible through ultrasound. Already at the first screening study, which is scheduled for 12-14 weeks, a specialist can confirm the pathology. After this, a woman is obligatorily assigned an additional examination for concomitant malformations.

Healing measures

The only form of the disease, which in reality is a danger to life, is bilateral renal agenesis. It is often enough that a fetus with such a diagnosis dies even in the mother's womb or at the time of delivery. Also, the likelihood of a fatal outcome in the first few days of life is quite high due to renal failure.

Thanks to the development of perinatal medicine, it is now possible to save a child with this pathology. To do this, it is necessary to perform an organ transplantation operation in the first hours after birth , and then regularly do hemodialysis. This method of treating the disease is quite real and is used in practice in large medical centers. However, initially it is necessary to organize a rapid differential diagnosis and exclude other defects of the urinary system.

Unilateral renal agenesis is characterized by a favorable prognosis. If the patient's course of pathology is not complicated by unpleasant symptoms, it is enough for him to undergo a prophylactic examination once a year and take the necessary tests. It is also necessary to protect a healthy kidney. Detailed advice should be given by the attending physician. Typically, they include adherence to a diet with the exception of acute and salty foods, the rejection of addictions.

Aplasia is not treated specifically. However, without preventive recommendations for strengthening immunity is indispensable. It is necessary to eat right, to avoid infectious and viral diseases. It is also recommended to abandon serious physical exertion.

In severe form of the pathological process, hemodialysis and even organ transplantation may be required. In all other cases, therapy is prescribed individually, taking into account the nature of the ailment and the overall clinical picture.

Methods of prevention

Aplasia and agenesis of kidney codes according to ICD-10 have different. However, both these pathologies cause concern for future parents. Is it possible to prevent their occurrence?

If you exclude a genetic predisposition to an ailment, then the prevention measures are fairly simple. Even at the planning stage, the expectant mother should begin to monitor her health (eat right, give up harmful habits, and engage in feasible sports). Such recommendations should be followed after successful conception of the baby.

If the development of pathology could not be avoided, it is necessary to take measures to eliminate it. With bilateral agenesis, there is a symmetrical retardation of the fetus in development, hypochlorism. If an anomaly is detected before the 22nd week of pregnancy, it is recommended that it be interrupted for medical reasons. When a woman refuses from her, use conservative obstetric tactics. It is worth noting that in the unilateral absence of the kidney a full life is possible. It is necessary only to occasionally undergo preventive examinations and examinations.