Lowe syndrome is a very rare hereditary disease. Because it is located on the X chromosome, almost only boys are affected by the disease. It is a multisystem disorder that affects several organs and can only be treated symptomatically.
What is Lowe syndrome?
The eyes, kidneys, muscles, and brain are particularly affected by Lowe’s system. In the disease, cataracts are congenital, although some affected individuals may also have evidence of increased eye pressure (glaucoma). Already in the first year of life, affected boys develop kidney problems, which are accompanied by an above-average loss of sodium, potassium, calcium and various acids in the urine. In addition, mental retardation becomes apparent at an early age. Lowe’s syndrome is caused by mutations in the OCLR1 gene. The disease was first described in the mid-1950s by Charles Upton Lowe, who gave it its name. He noted the condition as a syndrome of low urea production, mental retardation and aciduria. The genetic disorder is also known as oculo-cerebro-renal syndrome.
Causes
The disorder is inherited in an x-linked recessive manner. For this reason, males are predominantly affected. They lack the second X chromosome, which could compensate for the defect. Females, on the other hand, can carry the defective chomosome without being affected by the disease themselves, since in them the second X chromosome prevents the onset of the disease. Only in case of other genetic defects girls can be affected. The disease is localized on the long arm of the X chromosome (Xq24-q26.1). The mutation provides a defect in insositol phosphate metabolism, due to the defect in the formation of an enzyme.
Symptoms, complaints, and signs
There are several signs that indicate the disease. In addition to the symptoms listed above, affected boys exhibit muscle weakness. In addition, reflexes often cannot be triggered or are very delayed. Retardation affects not only mental development, but also physical development. Sufferers are underdeveloped and are usually characterized by a very shrill cry. Dysmorphic signs include pale skin, very thinning hair and a high forehead. Neurologically, seizures may occur. In addition, the patients show hardly any tendon reflexes. The influence of the muscles is related to the influence of the nervous nervous system on the brain and spinal cord. For this reason, epileptic seizures and behavioral problems may also occur. Seizure disorders also occur in half of those affected. These may be accompanied by febrile convulsions. In addition, Lowe’s syndrome sufferers show certain behavioral abnormalities that make it difficult to work with them. As a rule, they are unproblematic in character and often sweet and rather happy, but they are characterized by frequent, repetitive movements. In particular, they often have repetitive movements of the hands that cannot be consciously controlled. Apart from this, they usually have difficulty concentrating and are more easily distracted than average. Due to the impairment of the muscles, only 25 percent of children learn to walk upright by the age of 6. The rest do not develop the skill until the age of 13. Some children, on the other hand, never learn to walk. Because of the weakness in the back, some of those affected may also develop scoliosis or Scheuermann’s disease. Another symptom is rickets or soft bones. In the area of the eyes, strabismus and lens opacities are possible. The boys are forced to wear glasses or contact lenses if they can tolerate them. In severe cases, eye pressure can cause optic nerve injury, which can lead to blindness. Scarred tissue in front of the retina can also prevent light from entering, leading to blindness. This change cannot be operated on and is irreversible. Due to the impairment of the central nervous system, some children are also hyperactive or, in rare cases, may be prone to tantrums.
Diagnosis and course of the disease
Lowe syndrome is diagnosed by a special DNA test called RFLP (restriction fragment length polymorphism) analysis. In addition, cataract can be diagnosed after birth by means of a switch lamp. In some cases, the intraocular pressure is already elevated at this stage.This is a first sign of disease. CT can be used to determine the dilation of ventricles, and a urinalysis can also provide information. Phosphate, aminoacid and proteinuria are detectable in the urine. In addition, blood creatine kinase is elevated.
Complications
Primarily, affected individuals suffer from severe muscle weakness as a result of Lowe’s syndrome. This results in a reduced ability of the patient to cope with stress and thus also in severe limitations in the daily life of the affected person. It is not uncommon for the patients to be underweight, and children in particular can suffer from developmental disabilities as a result of the limitations. The patients’ skin is pale and convulsions and epileptic seizures occur frequently. In the worst case, these can also lead to the death of the patient. The children themselves suffer from behavioral problems and are often unable to follow lessons. Adults can also suffer from psychological symptoms, so that in many cases the performance of an activity cannot take place without further ado. Furthermore, Lowe’s syndrome can also lead to complete blindness of the affected person. The patients are hyperactive, so that not infrequently parents and relatives can also suffer from psychological complaints. A causal treatment of Lowe’s syndrome is not possible. Therefore, treatment is mainly carried out with the help of medication and psychological counseling. Whether all complaints can be limited in the process cannot usually be universally predicted.
When should one go to the doctor?
If parents notice abnormal behavior in their child, the pediatrician should be consulted. Lowe’s syndrome is manifested by mental retardation and physical symptoms that usually appear in the first few years of life. Warning signs such as difficulty walking or problems with speech indicate a serious condition. So do vision problems, refusal to eat or jaundice. Slowed growth must be discussed quickly with a medical professional. Lowe’s syndrome must always be diagnosed by a specialist in internal diseases, otherwise further complications may occur. The actual therapy usually takes place in a special clinic, with various specialists being consulted depending on the symptoms. For example, any muscle disorders must be treated by an orthopedist or a chiropractor, while vision disorders such as cataracts must be treated by an ophthalmologist. Mental retardation requires therapeutic measures that often last a lifetime. In addition to the affected person, parents and relatives are often involved. Last, physiotherapeutic measures, such as physiotherapy, are also an essential part of the therapy.
Treatment and therapy
Lowe’s syndrome is not curable, and recovery is impossible. Therefore, the disease is treated purely symptomatically. This includes physical and speech therapy, as well as treatments for individual symptoms. This includes, for example, glaucoma treatment and cataract surgery. Eye problems are treated with drops or ointments, if possible. In addition, medications for behavioral disorders are usually prescribed. These can be stimulants on the one hand and neuroleptics on the other. Antidepressants are also possible. The standard therapy also includes the regular administration of phosphate and vitamin D. In this way rickets and anemia can be treated. Sodium carbonate is used to balance acidosis. The prognosis for sufferers is poor. Few survive the first decade and if so are severely disabled in the following years. Premature death is usually caused by renal failure or hypotension. Life expectancy usually barely exceeds the age of thirty.
Outlook and prognosis
The prognosis of Lowe syndrome is unfavorable. The genetic condition cannot be treated causally. The law prohibits intervention and alteration of genetic material in humans. Therefore, doctors and researchers can only apply treatment measures that lead to symptom relief. Since the disease leads to a variety of symptoms, the patient’s quality of life is severely limited. In addition, the average lifespan of those affected is reduced. Despite all efforts in finding a suitable therapy, mental as well as physical irregularities occur with this disease. Patients often die due to organ failure.Most of those affected barely reach the age of 30. Overall, the disease represents a major challenge in coping with everyday life for the patient as well as for his or her relatives. Daily care is necessary to maintain a good quality of life. The first signs and symptoms appear within the first months or years of life. At any time, an acute health condition can arise that makes intensive medical care necessary. Seizures occur, behavioral problems are present, and various limitations in the functioning of the organism characterize the disease. Consequential damage can occur at any time, and psychological counseling should be sought.
Prevention
There are no indications or advice available by following which the disease can be prevented.
Aftercare
Genetic defects or mutations can have such serious consequences that physicians can mitigate, correct, or treat only a few of them. In many cases, inherited diseases trigger severe disabilities that affected individuals often struggle with for life. Aftercare therefore focuses on accepting and coping with these limitations. Psychotherapeutic care is useful in cases of hereditary diseases where depression, feelings of inferiority or other psychological disorders occur as a result of the characteristics of the disease. Often, in addition to psychological stabilization, physiotherapeutic or psychotherapeutic measures are applied. However, treatment successes can be achieved for a whole range of slowly progressive hereditary diseases. The extent to which these improve general well-being depends on the severity of the disease itself. Generalized statements about the type of follow-up care are only permissible to the extent that life is made easier for the affected patients if possible. Some of the symptoms or disorders of inherited diseases can be successfully treated nowadays.
What you can do yourself
Individuals suffering from Lowe’s syndrome require comprehensive [[Physical Therapy|Physio and Speech Therapy. Self-help measures are limited to supporting treatment through regular exercise. In addition, any accompanying symptoms must be diagnosed and treated. The patient can contribute to a rapid diagnosis by keeping a symptoms diary. The individual symptoms can be treated individually. For example, drops or ointments can be used for glaucoma, cataracts and other eye problems. Usually the doctor will prescribe a suitable preparation, but in some cases remedies from natural medicine can also be used. Any behavioral disorders must be treated, in addition to medication, as part of behavioral therapy. The affected person needs the support of friends and relatives who can intervene quickly in the event of cramps and other complaints. Accompanying these measures, a change in diet is indicated. Patients with Lowe’s syndrome need to take vitamin D, phosphate and other vitamins and minerals regularly to alleviate or prevent symptoms such as rickets and anemia. Sometimes the administration of dietary supplements is also useful. What else affected persons can do themselves besides this depends on the individual situation and can only be answered by the doctor in charge.