According to Percomputer, Lowe ‘s syndrome is a very rare hereditary disease. Since it is on the X chromosome, almost only boys are affected by the disease. It is a multisystem disease that affects various organs and can only be treated symptomatically.
What is Lowe Syndrome?
The eyes, kidneys, muscles and brain are particularly affected by the Lowe system. In the case of the disease, the cataract is congenital, although increased eye pressure can also be detected in some of those affected ( glaucoma ). Already in the first year of life, affected boys develop kidney problems, which are associated with an above-average loss of sodium, potassium, calcium and various acids in the urine.
In addition, a mental disability (retardation) becomes apparent early on. Lowe’s syndrome is caused by mutations in the so-called OCLR1 gene. The disease was first described in the mid-1950s by Charles Upton Lowe – who gave the disease its name. He noted the disease as a syndrome of low urea production, mental retardation and aciduria. The genetic disease is also known as oculo-cerebro-renal syndrome.
The disease is inherited in a x-linked recessive manner. For this reason, men are predominantly affected. They lack the second X chromosome, which could compensate for the defect. Women, on the other hand, can carry the defective chromosome without being affected by the disease themselves, as their second X chromosome prevents the disease from developing. Girls can only be affected in the case of other genetic defects.
The disease is localized on the long arm of the X chromosome (Xq24-q26.1). The mutation causes a defect in insositol phosphate metabolism due to the defect in the formation of an enzyme.
Symptoms, Ailments & Signs
There are various signs that indicate the disease. In addition to the symptoms mentioned above, affected boys show muscle weakness. In addition, often no reflexes can be triggered or they only appear very late. The retardation affects not only the mental development, but also the physical. Patients are understated and are usually characterized by a very high-pitched cry.
Signs of dysmorphia are pale skin, very sparse hair and a high forehead. Neurologically, seizures can occur. In addition, the patients hardly show any tendon reflexes. The influence of the muscles is related to the influence of the nervous system on the brain and spinal cord. Because of this, epileptic seizures and behavioral problems can also occur.
Half of those affected also experience seizure disorders. These can be accompanied by febrile seizures. In addition, people with Lowe’s syndrome show certain behavioral problems that make working with them difficult. As a rule, they are unproblematic in character and often sweet and rather happy, but are characterized by frequent, repetitive movements. This often leads to repeated movements of the hands that cannot be consciously controlled.
Apart from that, they usually have difficulty concentrating and are easily distracted. 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 ability until they are 13 years old. However, some children never learn to walk. Due to the weakness in the back, some of those affected can also develop scoliosis or Scheuermann’s disease. Another symptom is rickets or soft bones.
Squinting and lens opacities are possible in the area of the eyes . The boys are forced to wear glasses or contact lenses if they can tolerate them. In severe cases, the pressure in the eye can damage the optic nerve, which can lead to blindness. Scarred tissue in front of the retina can also prevent the penetration of light and thus lead to blindness. This change cannot be operated on and is irreversible. The impairment of the central nervous system also makes some children hyperactive or, in rare cases, prone to tantrums.
Diagnosis & disease progression
Lowe’s syndrome is diagnosed using a special DNA test, the RFLP analysis (restriction fragment length polymorphism analysis). In addition, the cataract can be diagnosed after birth using a switching lamp. In some cases, the intraocular pressure is already increased here. This is a first sign of illness. A CT can be used to determine the expansion of ventricles, and a urine test can also provide information. Phosphate, amino acid and proteinuria can be detected in the urine. In addition, creatine kinase is increased in the blood.
First and foremost, those affected by Lowe’s syndrome suffer from severe muscle weakness. This leads to a reduced resilience of the patient and thus to severe restrictions in the everyday life of the person concerned. It is not uncommon for patients to be of short stature, and children in particular can suffer from developmental disorders as a result of the restrictions. Patients’ skin is pale, and convulsions and epileptic seizures are common.
In the worst case, this can even lead to the death of the patient. The children themselves suffer from behavioral problems and are often unable to follow the lessons. Adults can also suffer from psychological problems, so that in many cases it is not possible to carry out an activity without further ado. Furthermore, Lowe’s syndrome can also lead to complete blindness of those affected.
The patients are hyperactive, which often means that parents and relatives can also suffer from psychological problems. A causal treatment of Lowe’s syndrome is not possible. The treatment is therefore mainly with the help of medication and psychological counseling. As a rule, it cannot be universally predicted whether all complaints can be reduced.
When should you go to the doctor?
If parents notice any unusual behavior in their child, the pediatrician should be consulted. Lowe’s syndrome manifests itself through mental retardation and physical complaints, which usually appear in the first years of life. Warning signs, such as difficulty walking or speaking, indicate a serious condition. Likewise, visual problems, refusal to eat or jaundice. Slowed growth needs to be discussed with a medical professional as soon as possible.
In any case, Lowe’s syndrome must be diagnosed by a specialist in internal diseases, otherwise further complications can arise. The actual therapy usually takes place in a special clinic, with various specialists being consulted depending on the symptoms. Any muscle disorders must be treated by an orthopedist or a chiropractor, while visual disorders such as cataracts must be treated by an ophthalmologist. Mental disability requires therapeutic measures that often last a lifetime. In addition to those affected, parents and relatives are often involved. Finally, physiotherapeutic measures, such as physiotherapy, are an essential part of the therapy.
Treatment & Therapy
Lowe’s syndrome is incurable and recovery is impossible. Therefore, the disease is treated purely symptomatically. This includes physiotherapy and speech therapy as well as treatment of individual complaints. This includes, for example, glaucoma treatment and cataract surgery. Eye problems are treated with drops or ointments when possible.
Behavioral medications are also usually prescribed. These can be stimulants on the one hand and neuroleptics on the other. Antidepressants are also possible. Standard therapy also includes the regular administration of phosphate and vitamin D. This is how rickets and anemia can be treated. An acidosis balance is created with sodium carbonate.
The prognosis for the sick is poor. Few survive the first decade and if so are severely disabled in the years that follow. Renal insufficiency or hypotension usually leads to premature death. Life expectancy usually hardly exceeds the age of thirty.
Outlook & Forecast
The prognosis of Lowe’s syndrome is unfavorable. The genetic disease cannot be treated causally. The legal situation prohibits an intervention and the modification of the genetic hereditary material in humans. Therefore, doctors and researchers can only apply treatments that result in symptom relief.
Since the disease leads to a variety of complaints, the patient’s quality of life is severely restricted. In addition, the average lifespan of those affected is reduced. Despite all efforts to find a suitable therapy, this disease leads to mental and physical irregularities. Patients often die due to organ failure. Most of those affected hardly reach the age of 30.
Overall, the disease poses a major challenge in coping with everyday life for the patient and their 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. An acute health condition can occur at any time that requires intensive medical care. Seizures occur, behavioral problems are present and various restrictions on the functionality of the organism characterize the disease. Consequential damage can occur at any time and psychological counseling should be sought.
There are no indications or advice which, if followed, can prevent the disease.
Genetic defects or mutations can have such serious consequences that medical professionals can only mitigate, correct or treat a few of them. In many cases, hereditary diseases trigger severe disabilities, which those affected often have to struggle with for life. Follow-up care therefore focuses on embracing and dealing with these limitations.
Psychotherapeutic care makes sense for hereditary diseases where the characteristics of the disease lead to depression, feelings of inferiority or other mental disorders. In addition to psychological stabilization, physiotherapeutic or psychotherapeutic measures are often used. However, successful treatment can be achieved for a whole series of slowly progressing hereditary diseases. How much these improve general well-being depends on the severity of the disease itself.
General statements about the type of aftercare are only permissible to the extent that life is made easier for the patients concerned. Some of the symptoms or disorders of hereditary diseases can now be successfully treated.
You can do that yourself
Individuals suffering from Lowe’s syndrome require comprehensive [[physiotherapy|physiotherapy and speech therapy. The self-help measures are limited to supporting the treatment through regular practice. In addition, any accompanying symptoms must be diagnosed and treated. The patient can contribute to a quick diagnosis by keeping a complaints diary.
Each symptom can be treated individually. Drops or ointments are useful for glaucoma, cataracts and other eye problems. As a rule, the doctor will prescribe a suitable preparation, but in some cases natural medicine can also be used. Any behavioral disorders must be treated as part of behavioral therapy in addition to drug treatment. The person affected needs the support of friends and relatives who can intervene quickly in the event of cramps and other complaints.
A change in diet is indicated to accompany these measures. Patients with Lowe’s syndrome need to take vitamin D, phosphate, and other vitamins and minerals regularly to reduce or prevent symptoms such as rickets and anemia. Sometimes the administration of dietary supplements is useful. What those affected can do themselves depends on the individual situation and can only be answered by the responsible doctor.