Renal agenesis

The Renal agenesis is the lack of embryonic anal development in one or both of the kidneys. Unilateral renal agenesia are usually symptom-free and do not impair life, whereas bilateral forms are usually fatal. In bilateral agenesis, kidney transplantation is the only effective therapy.

What is renal agenesis?

The diagnosis of renal agenesis is usually made prenatally on the basis of sonography. If the unilateral abnormal development is only detected postnatally, it is usually an incidental sonographic finding, since the patient is asymptomatic.
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During embryogenesis, the kidneys develop piece by piece on a healthy embryo. This development takes place on the basis of the intermediate mesoderm and includes the separate formation of the anterior, urinal and posterior kidneys. The individual development steps are highly complex. In early embryonic development, three kidneys are created one after the other. The last one trained takes over the kidney function, while the other two systems regress or are incorporated into the urogenital tract.

The development extends from the 22nd day of pregnancy to about the fifth week of pregnancy. If an error occurs during fetal kidney development, it can be one Renal agenesis cause. With such renal agenesis, one or even both kidneys do not develop. If only one kidney is affected, the doctor speaks of a unilateral renal agenesis. If both kidneys are affected, bilateral renal agenesis is present. Sometimes there is also talk of anephria, which is usually fatal.

causes

The causes of renal agenesis lie in embryogenesis. Up to the fifth week of pregnancy, the kidneys are differentiated either incorrectly or not at all. Renal agenesis has so far been found in around one in 800 to 1100 live births. Boys were more often affected than girls. A familial accumulation could not be determined. Presumably there are no genetic dispositions related to the phenomenon.

This means that renal agenesis can probably not be passed on. Instead of genetic causes, the lack of development in one or both kidneys can be traced back to an incorrect development of the primitive ureter. The metanephrogenic blastema of those affected is also affected by an undesirable development, which is also causally related to the agenesis. It has not been conclusively determined what exactly causes the undesirable development of the ureter and blastema. There is currently speculation about spontaneous gene mutations caused by environmental toxins.

Symptoms, ailments & signs

The unilateral absence of the kidneys is usually compensated for during kidney development by the enlarged attachment of the second kidney. Clinically, if the kidneys are missing on one side, there are no symptoms at all, as long as the second kidney is fully functional. Concomitant malformations of the urinary organs occur, such as those of the bladder as well as the ureter.

Under certain circumstances, recurrent urinary tract infections can also occur, with which the malformations are causally related. Bilateral renal agenesis is also usually associated with other malformations. Because the malformations in this form of agenesis, for example, often correspond to multiple malformations of the lungs and, without kidneys, the waste materials cannot be removed from the blood in the long term even with dialysis, bilateral agenesis of the kidneys is generally not compatible with life . In addition to a lack of vitamins and erythropoietins, there are symptoms of poisoning.

Diagnosis & course of disease

The diagnosis of renal agenesis is usually made prenatally on the basis of sonography. If the unilateral abnormal development is only detected postnatally, it is usually an incidental sonographic finding, since the patient is asymptomatic. Kidney function can be checked by examining the urine and serum.

The determination of the creatinine and urea as well as the determination of the electrolyte level is necessary for this. Potassium, sodium and chlorine primarily play a role in the electrolyte level. Unilateral renal agenesies are usually symptom-free and hardly affect the patient. Bilateral forms of renal agenesis have been associated with a fatal prognosis.

Complications

As already mentioned, unilateral renal agenesis usually does not cause any symptoms because one kidney takes over the tasks of both kidneys. However, the risk of complications is increased when it comes to lower urinary tract disease. If both kidneys are missing, survival is not possible at all. The lack of a kidney is often not even noticed by those affected.

However, a malformation of the genitals is observed in 75 to 90 percent of cases in female patients. If unilateral renal agenesis is found by chance, constant medical monitoring is still necessary in order to rule out complications in advance. The diseases that could cause a loss of kidney function are always threatening.

This often leads to the patient being required to dialysis up to total kidney failure, which can then only be treated with the help of a kidney transplant. Therefore, for a patient with unilateral renal agenesis, there is a need for self-observation for corresponding symptoms and for measures to be taken to prevent diseases of the lower urinary tract.

This requires appropriate hygiene measures such as urination after coitus or, in women, wiping the urethral outlet towards the anus. If signs of a urinary tract infection appear, an immediate blood and urine test is needed. The same applies if there is an unclear febrile infection. An infection of the lower urinary tract must be treated immediately with antibiotics.

When should you go to the doctor?

Parents whose child has been diagnosed with renal agenesis must consult their doctor closely. The absence of one or both kidneys is a serious condition that must be treated as part of an organ transplant. Accordingly, the affected children cannot leave the hospital after the birth, but must be closely monitored and cared for. After a procedure, the child should be carefully observed. Any signs that the body is rejecting the donor kidney should be reported to the attending physician immediately.

The child must be brought to a clinic immediately so that further examinations and, if necessary, another operation can be initiated. For unilateral renal agenesis, a doctor should be consulted if the child shows signs of severe malaise. In the event of inflammation of the urinary tract or abdominal injuries, an immediate diagnosis by a specialist is necessary, as there is a risk of inflammatory kidney damage. In addition to the general practitioner, both forms of renal agenesis are treated by an internist. In addition, parents and children should take therapeutic support.

Treatment & Therapy

Complete anephria can only be remedied with an organ transplant. Unilateral renal agenesia usually does not need to be treated, as the enlarged, second kidney satisfactorily replaces the function of the missing kidney. A complication are accompanying diseases that impair the function of the remaining kidneys. Functional kidney diseases make patients with unilateral renal agenesis, for example, mandatory dialysis and are more life-threatening for those affected than for people without a missing kidney.

For this reason, all urinary tract diseases and abdominal injuries must be monitored with caution and caution to prevent functional kidney disease. Those affected by unilateral renal agenesis are therefore requested by the doctor to observe themselves carefully, for example if they develop inflammation of the lower urinary tract, as such inflammation can lead to inflammatory kidney damage.

Hygiene measures for the prophylaxis of urinary tract infections are crucial preventive measures by which the patient can protect his remaining kidney. As soon as the first signs of a urinary tract infection or another infection of unclear origin appear, patients undergoing renal agenesis must immediately have these symptoms clarified by a doctor using blood analyzes and urine samples before their unilateral kidneys can be damaged. Antibiotic therapy must take place as soon as possible against inflammatory diseases of the urinary tract.

Outlook & forecast

The prognosis of renal agenesis depends on the extent of the individual complaints. Decisive for the further course is to clarify whether one or both kidneys are affected by the health disorders. For a large number of those affected, a diagnosis is made in the womb. Doctors can therefore react promptly and comprehensively to possible complaints, as they are prepared for health irregularities.

If the disease progresses poorly, both kidneys of the patient are affected. There is a need for a kidney transplant in these cases. Transplanting a donor organ is associated with numerous complications and side effects. Lifelong medical care is provided so that any complaints can be taken immediately.

In some patients, the disease goes undetected for a long time. The existing complaints are minor for them or the person concerned experiences a symptom-free situation. This is often the case when renal agenesis only affects one kidney.In this case, the healthy kidney takes over the tasks for both organs, so that often no impairments are noticed in everyday life.

Basically, people with the disease have a higher risk of infection. If complications or other illnesses arise, there is a risk of organ failure. As soon as the kidney's ability to function is impaired, a life-threatening condition develops.

prevention

The causes of renal agenesia are so far unknown. It is therefore difficult to prevent this malformation of the kidneys. Since genetic mutations due to environmental toxins are now associated with the deformity, avoiding contact with poison may be a preventive measure. On the other hand, environmental toxins cannot be completely avoided during pregnancy.

Aftercare

In most cases, the affected person has very few and only very limited measures or options for direct follow-up care at their disposal. Those affected should therefore contact a doctor at the first symptoms or signs of the disease so that there are no further complications or complaints. The renal agenesis cannot heal itself.

This disease does not always require treatment, although regular check-ups and examinations by a doctor are very important. The kidneys and urinary tract in particular should be checked regularly by a doctor. Regular blood tests should also be carried out.

In some cases, renal agenesis can cause infections or inflammation of the urinary tract or kidneys, so that treatment with the help of antibiotics is necessary. Those affected should always observe the correct dosage and regular intake, whereby alcohol should be avoided during the cure.

In general, a healthy lifestyle with a healthy diet can have a very positive effect on the further course of the disease. Usually this disease does not reduce the life expectancy of those affected.

You can do that yourself

Unilateral renal aganesia does not require treatment. The child can easily grow up with a kidney without any complications. However, parents should look out for any unusual symptoms and report them to the doctor if necessary.

Should symptoms nevertheless occur that indicate a disorder of kidney function, the emergency medical service must be contacted. With bilateral renal aganesia, the child is not viable without dialysis. The most important self-help measure is to deal with the fears associated with such severe suffering. After a kidney transplant, the child must be under constant observation so that the emergency doctor can be called immediately in the event of complications. Parents can also organize outpatient care to help them care for the child.

In addition to symptomatic treatment, parents should visit a specialist center for internal diseases and learn more about renal aganesia. In general, knowledge of the disease helps to take the right measures in an emergency. As the child grows up, they need to be educated about their condition. The parents can take on this task themselves and inform the child about the disease together with the responsible nephrologist or family doctor.