Nephroblastomatosis is a rare disease that affects the kidneys. Nephroblastomatosis is manifested by the persistence of kidney tissue from the embryo after birth. The tissue represents a so-called metanephric blastema and is immature. It increases the likelihood that the patient will develop a malignant degeneration of the kidney tissue.
What is nephroblastomatosis?
Basically, nephroblastomatosis is a different disease from nephroblastoma, with which it is often confused. However, this disease represents a malignant tumor of the kidneys in pediatric patients. The metanephrogenic blastema of nephroblastomatosis develops in the fetus during pregnancy. In the majority of cases, the fetal tissue transforms into renal parenchyma with tubules and glomerules. Only in approximately one percent of individuals are portions of remaining embryonic tissue detectable in autobiopsies. The remnants of the blastema usually degrade during the first four months after birth in affected babies. If complete regression does not occur, extensive damage and deformation of the parenchyma of the kidney develop. In addition, the tissue often enlarges. Nephroblastomatosis is divided into three different types according to the localization to the lobes of the kidneys. Thus, an intralobaric, a perilobaric as well as a panlobaric form of nephroblastomatosis exist. In the last type, the kidney enlarges after a relatively short time.
Causes
The exact causes of the pathogenesis of nephroblastomatosis are currently not sufficiently researched, so that definite statements about the reasons for its development are not yet possible. However, the mechanism of disease development is partially known. In embryos, the so-called metanephrogenic blastema develops in the kidney and regresses over time. In place of the fetal tissue, renal parenchyma with tubules and glomerules develops in healthy individuals. However, in nephroblastomatosis, a small proportion of the metanephrogenic blastema remains after birth. This results in the risk of malignant degeneration of the kidney tissue. The exact reasons for the retention of metanephrogenic blastema in infants have not been conclusively determined.
Symptoms, complaints, and signs
In nephroblastomatosis, kidney tissue from the embryo, called metanephrogenic blastema, remains in the kidney after birth. Normally, this fetal tissue completely regresses. Patients are at increased risk of malignant degeneration of the kidneys. Thus, nephroblastomatosis is a precancerous condition. In the majority of cases, the typical changes of nephroblastomatosis are present in both kidneys. More rarely, a single kidney is affected by the abnormalities. In about half of the patients, a so-called Wilms tumor develops as a result of the nephroblastomatosis. This tumor is often diagnosed by chance during other examinations. Nephroblastomatosis is also associated with a number of other diseases and syndromes. D
his includes, for example, hemihypertrophy, multicystic renal dysplasia, and Beckwith-Wiedemann syndrome. Nephroblastomatosis also occurs frequently in association with multilocular cystic nephroma as well as aniridia.
Diagnosis and course of the disease
Diagnosis of nephroblastomatosis occurs in numerous cases merely by chance. Often, hardly any acute symptoms are noticeable as long as the nephroblastomatosis has not yet led to malignant degeneration of tissue of the kidneys. Therein lies the danger of nephroblastomatosis, as it is often detected too late. The patient’s medical history focuses, among other things, on chronic diseases or congenital syndromes that have an association with nephroblastomatosis. Appropriate clues facilitate the physician’s diagnosis of nephroblastomatosis. During the clinical examination of the patient, various methods contribute to the diagnostic result. Imaging techniques of the kidneys are particularly important. The physician often performs sonography, and the damage to the tissues of the kidney is partially visible. This is because they respond less to the echo sound than the surrounding tissue areas. In addition, a CT scan is often used in the diagnosis of nephroblastomatosis, with the patient taking special contrast agents beforehand.Since the lesions adsorb virtually no contrast medium, the damaged areas are relatively easy to identify. In addition, an MRI examination is possible. The physician performs a differential diagnosis, distinguishing nephroblastomatosis primarily from renal lymphoma because of the potential for confusion.
Complications
Because of nephroblastomatosis, the child may suffer from severe renal symptoms. It may also significantly reduce the patient’s life expectancy. In this case, the patients suffer from various malignant degenerations on the kidney tissue. In the worst case, this can also lead to renal insufficiency, which can ultimately result in death. Complications usually occur when nephroblastomatosis is diagnosed late. For this reason, pregnant women are dependent on various examinations to avoid complications in the process. Nephroblastomatosis can be treated relatively well if diagnosed early. There are no particular complications for the patient or the mother. In most cases, patients are dependent on chemotherapy, which is, however, associated with various side effects. Furthermore, those affected are still dependent on surgical interventions after birth. However, in most cases there are no particular complications. The degenerations can be removed. However, the cancer can spread to other regions of the body, so the children are also dependent on regular examinations.
When should you go to the doctor?
Nephroblastomatosis is a rare disease that is usually diagnosed by chance. Medical evaluation is necessary when symptoms such as kidney pain or recurrent fever are noticed. If nephroblastomatosis is indeed underlying, it must be diagnosed before the kidney tissue malignantly degenerates. For this reason, all complaints that indicate a serious condition must be clarified by the family doctor and, if necessary, by a nephrologist. Otherwise, considerable complications can occur, which in the worst case can lead to death. Parents who themselves suffer from kidney disease should have a genetic test performed. Since the causes of the disease are unknown, a specific diagnosis is not possible, but various warning signs should be investigated in any case. Individuals suffering from kidney disease or even nephroblastomatosis must see a doctor immediately if the warning signs are mentioned. The disease must be monitored closely so that rapid action can be taken in the event of degeneration and other complications. In addition to the family physician and nephrologist, various internists as well as neurologists may be responsible.
Treatment and therapy
Because existing nephroblastomatosis puts patients at high risk for malignant degeneration of the kidneys, regular examinations are of great importance. The intervals between the individual examination appointments are relatively short in order to provide rapid and targeted therapy for possible degenerations. In addition, there are possibilities for active therapy of nephroblastomatosis. So-called wedge resections and chemotherapy can be considered. Patients usually undergo appropriate surgical procedures to surgically remove damaged tissue from the kidneys. This partially reduces the risk that nephroblastomatosis will lead to malignant degeneration of the kidneys.
Outlook and prognosis
If left untreated, nephroblastomatosis has an unfavorable disease course. The affected individual is at increased risk of malignant cancer. Nephroblastomatosis is classified as a precursor to tumor disease. Therefore, the affected individual is at risk of premature death if medical care is not initiated in a timely manner. The stage of the disease at the time of diagnosis is therefore particularly crucial in developing a prognosis. The later the disease is diagnosed and treated, the less favorable the further course will be. The difficulty lies in the detection of the disease. It often remains undetected for a long time, since it hardly causes any impairment in everyday life. In many sufferers, the changes in the tissue are detected due to incidental findings. The prospect of recovery therefore also depends on the patient’s favorite prevention.Regular check-ups can therefore lead to rapid detection of the health change. The fastest possible intervention is possible in these cases and can contribute to a complete recovery in the further course. If malignant tissue growths have already developed, the affected person requires surgical intervention as well as cancer therapy. Otherwise, the general life expectancy will be significantly shortened. The further development here is highly dependent on the general health of the affected person.
Prevention
It is not yet possible to prevent nephroblastomatosis. The basics of disease development are already formed in fetuses in the womb. For this reason, it is hardly possible to influence it. In addition, the causes of nephroblastomatosis are currently still insufficiently known, so there is a need for further research.
Follow-up
In most cases of nephroblastomatosis, only a few and usually limited measures of direct aftercare are available to the patient. For this reason, the affected person should contact a physician at a very early stage to avoid further complications or, in the worst case, death of the affected person. An early diagnosis usually always has a very positive effect on the further course of the disease. Most of those affected depend on regular checks and examinations by a doctor in order to detect and remove kidney tumors at an early stage. Examinations after successful removal of the tumor are also very important, as this allows further tumors to be detected at an early stage. During treatment, many of those affected by nephroblastomatosis also depend on the help of their own family and relatives. Psychological support can also prevent depression and other psychological upsets. Contact with other patients with nephroblastomatosis can also be very useful, as this leads to an exchange of information that can improve the quality of life of the person affected. In many cases, the disease limits the life expectancy of the affected person.
What you can do yourself
As a chronic disease, nephroblastomatosis often causes sufferers and their loved ones to focus on the clinical picture. Many sufferers feel powerless and at the mercy of the disease. However, it is important for patients and their relatives not to experience the disease as something inevitable or inescapable. In order to delay the progression of the disease, affected persons and their relatives should therefore take an active role themselves. The use of screening programs for early detection of the disease and regular visits to the nephrologist are a matter of course. However, patients and their relatives should also familiarize themselves with the clinical picture and inform themselves. This increases knowledge about risk factors and promotes self-responsible action. This includes, on the one hand, regular blood pressure checks carried out by the patients themselves. Another important component of the active cooperation of the patients and their relatives is an adaptation and changeover to a lactose and gluten-free diet. Becoming active oneself and delaying the course of the disease also means making use of sporting offers, such as those in the field of rehabilitation sports. Chronic illnesses place a considerable burden on patients and their relatives. It often means a great relief to get support in a self-help group – online or on site. If necessary, the psychosocial counseling centers in the counties can also help.
