Dorothy FarrarDenys-Drash-Syndrome
Denys-Drash syndrome is a rare disease associated with genital malformations and a malignant kidney tumor, ultimately leading to kidney failure . Only 150 cases have been published worldwide of patients suffering from Denys-Drash syndrome.
What is Denys Drash Syndrome?
The term Denys-Drash syndrome (names after the doctors who first described the disease) describes a particularly rare inherited disease. Denys-Drash syndrome was first described in 1967 by a French doctor named Denys. In 1970, A. Drash described similar symptoms.
Significant symptoms are severe kidney disease, usually affecting both kidneys, proliferating connective tissue cells in the kidney corpuscles and malformations of the genitals.
Due to the triad of symptoms, the rare disease belongs to the nephrotic syndromes. The gene defect first manifests itself as a malignant kidney tumor (Wilms tumor). After birth, the kidney disease develops with a significantly increased concentration of protein in the urine . In Denys-Drash syndrome, kidney failure can be expected within a maximum period of four years, often shorter.
causes
Denys-Drash syndrome is not an acquired disease but a congenital disease. It is caused by gene mutation. In 90 percent of the diagnosed cases, a mutation of a specific WT1 gene located in the chromosome can be diagnosed in Denys-Drash syndrome. This mutation is the trigger for Wilms’ tumor. The mutation is almost always a new mutation in which the corresponding gene regulates the coding of a specific protein involved in genital development and nephrogenesis.
As a result of the genetic defect, which is causally responsible for Denys-Drash syndrome, not only the anomalies of the genitals and the development of Wilms tumors appear. The tissue of the kidneys also hardens. It scars more and more, so that in the end the functionality of the kidneys is no longer given. In the presence of Denys-Drash syndrome, this even goes so far that the kidneys can fail completely after a short time.
When to the doctor?
As a rule, Denys-Drash syndrome is diagnosed immediately after birth, so that a visit to the doctor for diagnosis is not necessary in most cases. However, the symptoms and complications must always be treated and examined by a doctor. In general, the patient must undergo regular check-ups, in which the function of the kidneys is checked in particular. It is not uncommon for relatives or parents to suffer from psychological problems or depression as a result of Denys-Drash syndrome .
If these symptoms occur, a visit to a psychologist is advisable. Of course, this also applies to the patient himself. In most cases, the affected children also suffer from various infectious diseases due to a weakened immune system . In any case, these must be treated by a doctor. If a kidney transplant is carried out, further examinations are usually necessary after this. There is no causal treatment for Denys-Drash syndrome. It is not uncommon for patients to also suffer from tumors that need to be further examined and removed.
symptoms and course
Denys-Drash syndrome is generally largely unknown because of the very small number of cases. Also, many doctors are unable to immediately recognize and diagnose Denys-Drash syndrome. Denys-Drash syndrome is mainly characterized by malformations of the external genitalia, nephrotic syndrome, excessive protein in the urine, and the formation of mesangial cells in the kidneys. Ultimately, Denys-Drash syndrome inevitably leads to chronic renal failure .
In the known cases of children affected by Denys-Drash syndrome, kidney failure often occurs before the third birthday. Most patients also develop a Wilms’ tumor within the first two years after birth. However, if children affected by Denys-Drash syndrome can have a kidney transplant, the prognosis is good.
Diagnose
Denys-Drash syndrome can be diagnosed shortly after birth based on the malformations of the genitals. In male newborns, the penis is too small. Female newborns have significantly enlarged labia. In addition, Denys-Drash syndrome is associated with abdominal swelling, high blood pressure , reduced urine output and excessively high levels of protein in the urine.
In order to rule out other diseases in the affected newborns, the kidneys must be examined both sonographically and using computed tomography . In this way, the sexual organs, which are typically malformed for Denys-Drash syndrome, can also be visually recognized and represented. In addition, the Denys-Drash syndrome must be differentiated from the WAGR syndrome, which is also associated with malformations of the genital organs and Wilms’ tumor.
complications
Denys-Drash syndrome leads to various complications in the patient, all of which usually reduce the quality of life and restrict the patient’s everyday life. First and foremost, there are various malformations in the genitals. This only results in delayed sexual development and those affected can feel ashamed of these symptoms and suffer from inferiority complexes and reduced self-esteem. It is not uncommon for blood pressure to rise, which can lead to heart problems and, in the worst case, to cardiac death.
Patients also complain of renal insufficiency, which also leads to death if left untreated. The affected person is then dependent on a transplant or on dialysis in order to survive. A causal treatment of Denys-Drash syndrome is usually not possible. For this reason, only the symptoms are treated. Those affected can also develop a tumor. In many cases, the immune system is also weakened, making it easier to develop inflammation and infections. In general, the patient’s life expectancy is significantly reduced by Denys-Drash syndrome.
treatment and therapy
Denys-Drash syndrome cannot be treated like other diseases because it is due to a genetic defect. All therapeutic measures in Denys-Drash syndrome are aimed at controlling and maintaining the function of the kidneys, treating possible high blood pressure and reducing the excessive protein content in the urine, as well as the possible symptoms associated with Denys-Drash syndrome to a large extent to mitigate.
It is particularly difficult that proteinuria cannot be controlled by the administration of medication . The present nephrotic syndrome cannot be treated with medication either. The therapy consists mainly of dialysis , which is then usually followed by the removal of one or both kidneys.
If organs are available, a kidney transplant should be sought. The removal of the kidneys is intended to prevent the development of a Wilms tumor in children affected by Denys-Drash syndrome. If there is a kidney transplant, there is not yet a known medical case in which the transplanted kidneys were then affected by Denys-Drash syndrome.
The genital organs can be adjusted as part of plastic surgery. Abnormal sex organs are usually removed as a precaution to rule out tumors in the tissue structures. In addition, if Denys-Drash syndrome is present, the parents of the affected newborns are recommended to have adequate nutrition and special prophylaxis with regard to infectious diseases .
prevention
Denys-Drash syndrome cannot be prevented because it is clearly an inherited disease that cannot be prevented. It is also not known to what extent the presence of Denys-Drash syndrome can be diagnosed before birth.
Hello and welcome to my Health Guide & Encyclopedia! My name is Dorothy Farrar, and I'm the founder and main author of this platform.
My passion for health and wellness started at a young age when I became interested in the connection between the food we eat and the way we feel. This fascination led me to study nutrition and dietetics in college, where I learned about the importance of a balanced diet and the impact of various nutrients on the body.