WAGR syndrome refers to the absence of a set of genes on the 11th chromosome. This disorder can lead to a number of conditions that may include tumors in the kidneys, cancer, eye disease, urogenital problems, mental retardation, and other diseases.
What is WAGR syndrome?
WAGR syndrome is a rare genetic condition that can affect both girls and boys. Children born with WAGR syndrome often develop eye problems and have a higher risk of developing certain forms of cancer, as well as intellectual disabilities. The term WAGR stands for the first letters of the most common physical and mental illnesses that can occur in affected individuals. These include Wilms tumor (‘W’), the most common form of kidney cancer in children. Also, aniridia (‘A’), the complete absence of the color part of the eye. Urogenital problems are also common; in English “genitourinary” (‘G’): here there is malpositioning of the sexual organs. And the last factor is mental retardation; in English “Retardation” (‘R’). Most people with WAGR syndrome suffer from two or more of these manifestations.
Causes
The cause of WAGR syndrome is a genetic defect. This means that it is triggered by the absence of a certain genetic section on the 11th chromosome. In most cases, such a change on the 11th chromosome happens already during the formation of the sperm or egg. However, development during the first weeks in the womb is also possible. More rare is the hereditary transmission of a change between chromosomes in one of the parents. This leads to a loss of genes when the gene set is passed on to the child. Also possible is a mixture of chromosomes in the child that lack the gene set and others that are complete.
Symptoms, complaints, and signs
Genetic WAGR syndrome is characterized by the symptom complex of Wilms tumor, aniridia, malformations of the genitourinary system, and mental retardation. All symptoms do not always have to occur at the same time. However, aniridia (absence of the iris) is almost always present. It thus provides an important clue to the disease. The absence of the iris can later lead to cataract and other eye diseases. In rare exceptional cases, however, aniridia is not present. Glaucoma (glaucoma) is also sometimes seen. Drooping eyelids (ptosis) are also noticeable in some affected individuals. Wilms’ tumor is the most common renal tumor in childhood. It occurs in about half of the patients with WAGR syndrome. Furthermore, up to 40 percent of patients over twelve years of age suffer from renal insufficiency. The genitourinary system is conspicuous by abnormalities ranging from intersexual genitalia to undescended testes. These anomalies are particularly prominent in males. They may also be absent in females. However, women sometimes suffer from gonadoblastoma (ovarian tumor). The vagina and uterus may eventually be malformed. Mental retardation varies in severity among patients. Some patients additionally develop extreme obesity during childhood. There is no cure for WAGR syndrome. Lifelong symptomatic therapy including regular monitoring of the kidneys for tumors and functional impairment is required. Malformations and tumors must be surgically removed.
Diagnosis and course
Symptoms that indicate WAGR syndrome are usually detected immediately after birth. Subsequently, genetic testing can be performed. Among the most noticeable signs is the absence of eye color in one or both eyes. The genetic test is called chromosome analysis or karyotype. This analysis specifically looks for the said set of genes on the 11th chromosome. An even more specific test is called FISH in short form (fluorescent in situ hybridization) and can search for single genes. In people or couples who have previously had a child with WAGR syndrome and thus belong to the risk group, possibilities exist to perform much earlier tests for diagnosis. Which of the namesake diseases the affected child will suffer is not certain. Also, there are people with WAGR syndrome who do not show any of the main symptoms.
Complications
WAGR syndrome leads to a number of different complaints and diseases, which can also significantly reduce the quality of life of the affected person. Patients usually suffer from mental retardation and various eye complaints in this syndrome. There is a missing iris in the eye, so that the vision of the affected person is significantly limited. Malformations and anomalies are also found on the rest of the body, which can significantly complicate the patient’s daily life. Many children also suffer from bullying or teasing due to the WAGR syndrome and may also suffer from psychological complaints or depression as a result. Often, the parents or relatives of the patient also suffer from severe psychological upsets. Furthermore, WAGR syndrome leads to cataracts and often to a complete loss of vision in the patient. Since WAGR syndrome also significantly increases the likelihood of various cancers, those affected are dependent on various treatments and regular examinations. Complications do not occur. However, complete cure cannot be achieved in this syndrome. Due to the mental disability, patients are always dependent on the help of other people in their lives and cannot cope with everyday life alone.
When should you go to the doctor?
Since WAGR syndrome cannot be cured on its own, the affected person should always consult a doctor. The earlier a doctor is consulted, the better is usually the further course of the disease. If the patient wishes to have children, genetic testing and counseling can also be performed to prevent the recurrence of WAGR syndrome. A doctor should be consulted for WAGR syndrome if the affected person suffers from a missing iris. Usually, this discomfort is directly visible to the eye. Furthermore, various eye complaints can also indicate this disease, if they occur permanently and also do not disappear again on their own. Likewise, tumors on the eyes often point to this syndrome. Most of the affected people suffer from a reduced intelligence and also from a strong obesity, whereby this can already occur in children. Likewise, sexual complaints often point to this disease when they occur in conjunction with the other complaints. In the case of WAGR syndrome, a general practitioner or a pediatrician can be consulted in the first place, who can diagnose the syndrome. Further treatment will then depend on the exact symptoms and how severe they are.
Treatment and therapy
Treatment of WAGR syndrome depends individually on the diseases and disorders that the child develops as a result of the defect. Approximately half of all children with WAGR syndrome develop the Wilms tumor between the first and third years of life, but it can occur up to the eighth year, and in very rare cases later. To ensure timely treatment, the child is examined with ultrasound every three months until age eight to detect the tumor early. Aniridia can be treated by both medication and surgery and aims to preserve the child’s vision. To prevent urogenital problems, regular examinations of the lumbar area are also performed, both in boys and girls. Testicles and ovaries are at risk of developing cancer and may need to be removed. If this is the case, hormone therapy will be prescribed. Mental impairment in children can vary from mild to severe, but in some cases intelligence remains completely normal.
Prevention
Because WAGR syndrome is a genetic defect, no cure or direct prevention exists. Human genetic counseling by a specialist can help couples who wish to have children assess the risks. Even if pregnancy has already occurred, education can help decide whether to carry a child to term with WAGR syndrome.
Follow-up
Because the condition places a heavy burden on affected individuals in their daily lives, ongoing psychological counseling should be considered. The social environment should be maintained so that affected persons can always ask for help from family members. In order to be able to live permanently with the disease, it is important to ensure emotional stability.Small pleasures in life are very important to make life with the disease easier for those affected. Activities that affected persons enjoyed before should be planned and carried out again with the social environment. Affected persons should avoid any situation of stress. It is also advisable to visit a self-help group. There, sufferers can exchange ideas with other sufferers and learn new ways of living with the disease. In addition, sufferers then do not feel left alone with the disease. Patients should adapt their lifestyle to the disease as much as possible. The job they do should also be compatible with the disease. Patients should under no circumstances overexert themselves physically or mentally. Affected persons should also obtain sufficient information about the disease from their physician and inform themselves independently. In this way, any situation arising from the disease can be dealt with appropriately. Relatives should also be sufficiently informed to deal appropriately with affected persons.
This is what you can do yourself
Dealing with this disease is a considerable challenge for the affected person as well as their relatives. In everyday life, support and cooperation with a psychotherapist should therefore be sought. Numerous complaints occur, which are often difficult to deal with. In order to reduce situations of emotional overload to a minimum, cognitive stability is enormously important. Self-confidence must be strengthened and should be built up daily through small feelings of success. Humor and joie de vivre are two important components in everyday events. They support further development and have a positive influence in coping with everyday challenges. The way of life should be adapted to the possibilities of the affected person. Situations of physical overexertion or mental overload should always be avoided. In addition, comprehensive information about the disease and all possible complaints is enormously important. Responsibility for the current state of information lies not only with the attending physician, but also with the patient or his or her relatives. Doing your own research helps to expand your own knowledge. Knowledge of further events helps to cope with sudden developments and provides more sovereignty in these cases. In this way, situations of fear or panic can be better managed.
