De Toni-Debre-Fanconi Syndrome is a severe congenital disease characterized by a variety of metabolic disorders. Most often, children of the first year of life suffer from it. As a rule, it occurs in combination with other hereditary pathologies, but can also manifest as an independent syndrome.
A Brief History
The disease was discovered and studied in 1931 by Dr. Fanconi from Switzerland. Examining a child with rickets, short stature and changes in urine tests, he came to the conclusion that this combination of symptoms should be considered as a separate pathology. Two years later, de Tony made his own corrections, added hypophosphatemia to the already existing description, and some time later, Debre revealed aminoaciduria in such patients.
In the domestic literature, this condition is called the terms "hereditary de Toni syndrome - Debre - Fanconi" and "glucoaminophosphate diabetes". Abroad, it is often referred to as renal Fanconi syndrome.
Causes of Fanconi syndrome
At the moment, it has not been possible to fully figure out what underliesthis serious illness. Fanconi syndrome is thought to be a genetic disorder. Experts believe that the development of this pathology is associated with a point mutation, which leads to improper functioning of the kidneys. Numerous studies have confirmed that there is a violation of cellular metabolism in the body. It is possible that adenosine triphosphate (ATP), a compound that plays an important role in energy metabolism, is involved in the case. As a result of incorrect functioning of enzymes, glucose, amino acids, phosphates and other equally useful substances are lost. Under such harsh conditions, the renal tubules do not receive the energy they need to function. Useful substances are excreted along with urine, metabolic processes are disturbed, rickets-like changes in bone tissue develop.
Fanconi syndrome is much more common in children than in adults. According to statistics, the frequency of pathology is 1:350,000 newborns. Both boys and girls get sick in equal proportions.
Signs of Fanconi syndrome
The disease can develop at any age, but most often it occurs in children of the first year of life. Glucosuria, generalized hyperaminoaciduria and hyperphosphaturia - this triad of signs characterizes Fanconi syndrome. Symptoms develop quite early. First of all, parents notice that their child begins to urinate more often, and he is constantly thirsty. Babies, of course, cannot say this in words, but by their capricious behavior and constant hanging on their chest or bottle, it becomes obvious that something is wrong with the child.so.
Further on, parents are worried about frequent unexplained vomiting, prolonged constipation and unexplained high fever. As a rule, at this stage the child finally gets to see a doctor. An experienced pediatrician may suspect that this combination of symptoms is not at all similar to the common cold. If the doctor turns out to be competent, he will be able to recognize Fanconi syndrome in time.
Symptoms, meanwhile, do not disappear. A noticeable lag in physical and mental development is added to them, pronounced curvature of large bones appears. Usually, changes affect only the lower extremities, leading to deformity of the varus or valgus type. In the first case, the child's legs will be curved by the wheel, in the second - in the form of the letter "X". Both options, of course, are unfavorable for the child's later life.
Fanconi syndrome in children often includes osteoporosis (premature bone loss) as well as significant growth retardation. Fractures of long tubular bones and paralysis are not excluded. Even if until now the parents have not worried about the condition of the baby, then at this stage they will definitely not refuse qualified help.
Fanconi syndrome in adults is quite rare. The thing is that this serious disease naturally leads to the development of renal failure. In this scenario, it is impossible to give any unambiguous forecast and guarantee a longer life expectancy. ATLiterature describes cases when, at the age of 7-8 years, Fanconi's syndrome was losing ground, there was a noticeable improvement in the child's condition and even recovery. Unfortunately, such options in modern practice are rare enough to draw any serious conclusions.
Diagnosis of Fanconi syndrome
In addition to taking an anamnesis and a thorough examination, the doctor will definitely prescribe some examinations to confirm this disease. Fanconi syndrome inevitably leads to disruption of the kidneys, which means that a routine urine test will be mandatory. Of course, this is not enough to reveal all the features of the course of the disease. It is necessary to look not only at the content of protein and leukocytes in the urine, but also try to detect lysozyme, immunoglobulins and other substances. The analysis will also necessarily reveal a high content of sugar (glucosuria), phosphates (phosphaturia), significant losses of substances important for the body will be visible. Such an examination can be carried out both on an outpatient basis and in a hospital.
Some changes are also inevitable in blood tests. In a biochemical study, a decrease in almost all significant trace elements (primarily calcium and phosphorus) is noted. Severe metabolic acidosis develops, interfering with the normal functioning of the whole organism.
X-ray of the skeleton will show osteoporosis (destruction of bone tissue) and deformity of the limbs. In most cases, a lag in the rate of bone growth and their inconsistency with biological age is found. AtIf necessary, the doctor may prescribe an ultrasound scan of the kidneys and other internal organs, as well as an examination by related specialists.
Differential diagnosis
There are cases when some other diseases masquerade as Fanconi's syndrome. The doctor faces the difficult task of understanding what is really happening with a small patient. Sometimes glucoaminophosphate diabetes is confused with chronic pyelonephritis and other kidney diseases. Changes in urine tests, as well as the characteristic features of bone tissue damage, will help the pediatrician make the correct diagnosis.
Fanconi syndrome treatment
It is worth considering the fact that this pathology is chronic. It is quite difficult to completely get rid of unpleasant symptoms, you can only reduce the manifestations of the disease for a while. What does modern medicine offer to help sick children?
Diet comes first. Patients are advised to limit their intake of s alt, as well as all spicy and smoked foods. Milk and various sweet fruit juices are added to the diet. Do not forget about foods rich in potassium (prunes, dried apricots and raisins). In the case when the micronutrient deficiency has reached a critical stage, doctors prescribe special vitamin complexes.
At the background of the diet, large doses of vitamin D are administered. The patient's condition is constantly monitored - he has to take blood and urine tests from time to time. This is necessary in order to detect incipient hypervitaminosis in time and reduce the dose of vitamin D. The treatment is long, in long courses, with interruptions. ATIn most cases, this therapy helps restore impaired metabolism and prevent serious complications.
If the disease has gone far, the patient falls into the hands of surgeons. Experienced orthopedists will be able to correct bone deformities and significantly improve the child's standard of living. Such operations are performed only in case of stable and long-term remission: at least one and a half years.
Forecast
Unfortunately, the prognosis for these patients is poor. In most cases, the disease progresses slowly, eventually leading to kidney failure. Skeletal bone deformities inevitably lead to disability and a deterioration in the overall quality of life.
Can this pathology be avoided? Undoubtedly, a similar question worries everyone who is faced with Fanconi syndrome. Parents are trying to understand what they did wrong and where they did not follow the child. It is equally important to know whether the situation threatens to repeat with other children. Unfortunately, preventive measures have not been developed at the moment. Couples planning to have another child should consult a geneticist for more information about their concern.
Wissler-Fanconi syndrome (allergic subsepsis)
This disease is described only in children from 4 to 12 years old. The cause of this serious pathology is still unknown. It can be assumed that this syndrome is a typical autoimmune disease, a special form of rheumatoid arthritis. It always begins acutely, with a rise in temperature, which can last for weeks.keep on the figure of 39 degrees. In all cases, a polymorphic rash appears on the limbs, sometimes on the face, chest or abdomen. Usually recovery occurs without any serious complications. However, in some young patients, severe joint damage develops over time, leading to disability.
