Lowe's syndrome

In which Lowe's syndrome it is a very rare hereditary disease. Since it is on the X chromosome, almost only boys are affected by the disease. It is a multi-system disease that affects different organs and can only be treated symptomatically.

What is Lowe's Syndrome?

From Lowe system The eyes, kidneys, muscles and brain are particularly affected. Cataracts are congenital in the disease, although increased eye pressure can also be detected in some people affected (glaucoma). As early as 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 handicap (retardation) shows up 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 condition as a syndrome of low urea production, mental retardation, and aciduria. The genetic disorder is also called Okulo-cerebro-renal syndrome designated.

causes

The disease is inherited as a x-chromosomal recessive trait. For this reason, men are predominantly affected. They are missing 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 the second X chromosome prevents the disease from breaking out. 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 the insositol phosphate metabolism, due to the defect in the formation of an enzyme.

Symptoms, ailments & signs

There are several signs that indicate the condition. In addition to the symptoms mentioned above, affected boys also have muscle weakness. In addition, reflexes can often not be triggered or they only appear very late. The retardation affects not only mental development, but also physical development. Sick people are short of stature and are usually characterized by a very high-pitched screaming.

In addition to pale skin, signs of dysmorphism include very thinning hair and a high forehead. From a neurological point of view, seizures can occur. In addition, the patients hardly show any tendon reflexes. The influence on the muscles is related to the influence of the nervous nervous system on the brain and spinal cord. Because of this, epileptic seizures and behavior problems can also occur.

In addition, half of those affected experience seizure disorders. These can be accompanied by febrile seizures. In addition, people suffering from 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. Repetitive movements of the hands that cannot be consciously controlled are particularly common.

Apart from that, they are usually difficult to concentrate and are more 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 of them do not develop the ability until they are 13 years old. On the other hand, some children never learn to walk. Because of 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 clouding of the lens 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, eye pressure can damage the optic nerve, which can lead to blindness. Scarred tissue in front of the retina can also prevent light from penetrating and thus lead 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 & course of disease

The diagnosis of Lowe's syndrome is made 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 the first sign of illness. A CT can be used to determine the expansion of the ventricles, and a urine test can also provide information. Phosphate, amino acid and proteinuria can be detected in the urine. In addition, the creatine kinase is increased in the blood.

Complications

First and foremost, those affected by Lowe's syndrome suffer from pronounced muscle weakness. This results in a reduced resilience of the patient and thus also in severe restrictions in the everyday life of the person concerned. It is not uncommon for the patients to be of short stature, and children in particular can suffer from developmental disorders due to the limitations. Patients' skin is pale and convulsions and epileptic fits are common.

In the worst case, these can lead to the patient's death. The children themselves suffer from behavioral problems and are often unable to follow the lessons. Adults can also suffer from psychological complaints, so that in many cases they cannot carry out an activity without further ado. Furthermore, the Lowe syndrome can lead to complete blindness of the person concerned.

The patients are hyperactive, which often means that parents and relatives can also suffer from psychological complaints. A causal treatment of Lowe's syndrome is not possible. Treatment therefore takes place primarily with the help of medication and psychological counseling. As a rule, it cannot be universally predicted whether all complaints can be restricted in the process.

When should you go to the doctor?

If parents notice abnormal behavior in their child, the pediatrician should be consulted. Lowe's syndrome is characterized by a mental disability and physical complaints that usually occur in the first few years of life. Warning signs such as difficulty walking or difficulty speaking indicate serious illness. Likewise, visual problems, refusal to eat or jaundice. Slowed growth needs to be discussed with a medical professional quickly.

In any case, Lowe's syndrome must be diagnosed by a doctor specializing 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 orthopedic surgeon or a chiropractor, while visual disorders such as cataracts must be treated by an ophthalmologist. The mental handicap requires therapeutic measures, which 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 therapy.

Therapy & Treatment

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 treatments for individual complaints. This includes, for example, glaucoma treatment and cataract surgery. Eye problems are treated with drops or ointments, if possible.

Also, behavioral medication is usually prescribed. These can be stimulants on the one hand and neuroleptics on the other. Antidepressants are also possible. Standard therapy also includes regular administration of phosphate and vitamin D. This can treat rickets and anemia. Acidosis is compensated for with sodium carbonate.

The prognosis for sick people is bad. Only a few survive the first decade and then are severely disabled in the following years. Renal insufficiency or hypotension usually lead to premature death. As a rule, life expectancy barely exceeds the age of thirty.

Outlook & forecast

The prognosis for Lowe's syndrome is poor. The genetic disease cannot be treated causally. The legal situation forbids an intervention and the modification of the genetic material in humans. As a result, doctors and researchers can only apply treatments that provide symptom relief.

Since the disease leads to a multitude of complaints, the patient's quality of life is severely limited. In addition, the average lifespan is reduced for those affected. Despite all efforts to find a suitable therapy, mental as well as physical irregularities occur with this disease. Often times, patients die due to organ failure. Most of those affected hardly reach the age of 30.

Overall, the disease represents a major challenge in coping with everyday life for the patient as well as for their relatives. Daily care is necessary in order to maintain a good quality of life. The first signs and complaints appear within the first months or years of life. An acute health condition can arise at any time, which necessitates intensive medical care. Seizures occur, there are behavioral problems and various restrictions on 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 which, if followed, can prevent the disease.

Aftercare

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 that those affected often have to struggle with for life. Follow-up care therefore focuses on accepting these limitations and dealing with them.

Psychotherapeutic care is useful for hereditary diseases where the characteristics of the disease lead to depression, feelings of inferiority or other psychological disorders. In addition to psychological stabilization, physiotherapeutic or psychotherapeutic measures are often used. However, successful treatment can be achieved for a whole range of slowly progressing hereditary diseases. How much 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 insofar as they are made easier for the affected patient as far as possible. Some of the symptoms or disorders of hereditary diseases can be treated successfully today.

You can do that yourself

People who suffer from Lowe's syndrome require extensive [[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 complaint diary.

The individual symptoms can be treated individually. Drops or ointments are ideal for glaucoma, cataracts and other eye problems. As a rule, the doctor will prescribe a suitable preparation, but in some cases remedies from natural medicine can also be used. In addition to drug treatment, any behavioral disorders must be treated as part of behavioral therapy. The person affected needs the support of friends and relatives who can quickly intervene in the event of cramps and other complaints.

In addition to these measures, a change in diet is indicated. Patients with Lowe's syndrome must regularly take vitamin D, phosphate, and other vitamins and minerals to reduce or prevent symptoms such as rickets and anemia. Sometimes it makes sense to give food supplements. What those affected can also do themselves depends on the individual situation and can only be answered by the responsible doctor.