Fanconi syndrome: symptoms, diagnosis and treatment

The de Toni-Debreu-Fanconi syndrome is a serious congenital disease characterized by a variety of metabolic disorders. Suffer them most often children of the first year of life. As a rule, it is found in combination with other hereditary pathologies, but it can also manifest itself as an independent syndrome.

A short excursion into the history

The disease was discovered and studied in 1931 by Dr. Fanconi from Switzerland. Examining a child with rickets, low growth and changes in urine tests, he came to the conclusion that this combination of signs should be considered as a separate pathology. Two years later, De Tony introduced his own amendments, added hypophosphatemia to the already described description, and after a while Debreb detected aminoaciduria in such patients.

In the domestic literature this condition is called the terms "hereditary de Tony-Debreu-Fanconi syndrome" and "glucoaminophosphate diabetic". Abroad, it is more often referred to as renal Fanconi syndrome.

Causes of Fanconi syndrome

At the moment, it was not possible to find out to the very end what is behind this serious illness. Fanconi syndrome is supposedly a genetic disease. Experts believe that the development of this pathology is associated with a point mutation that leads to improper functioning of the kidneys. Numerous studies have confirmed that there is a disruption in the cellular metabolism in the body. It is possible that in the case involved adenosine triphosphate (ATP) - a compound that plays an important role in the exchange of energy. As a result of incorrect work of enzymes, glucose, amino acids, phosphates and other no less useful substances are lost. In such severe conditions, the renal tubules do not receive the energy necessary for their work. Useful substances are excreted along with urine, metabolic processes are disrupted, rachitis-like changes in bone tissue develop.

Fanconi syndrome in children is much more common than in adults. According to statistics, the frequency of pathology is 1: 350 000 newborns. Both boys and girls are sick in equal proportions.

Signs of Fanconi syndrome

The disease can develop at any age, but most often it is noted in children of the first year of life. Glucosuria, generalized hyperaminoaciduria and hyperphosphaturia - this triad of symptoms characterizes the Fanconi syndrome. Symptoms develop early enough. First of all, parents notice that their child begins to urinate more often, and his thirst constantly torments him. Kids, of course, can not say this in words, but according to their capricious behavior and constant hang on the chest or bottle it becomes obvious that something is wrong with the child.

In the future, parents are often bothered by frequent causeless vomiting, prolonged constipation and an unexplained fever. As a rule, at this stage the child finally gets to see a doctor. An experienced pediatrician may suspect that this common combination of symptoms is not at all similar to a common cold. If the doctor turns out to be literate, he will be able to recognize the Fanconi syndrome in time.

Symptoms meanwhile do not disappear anywhere. Added to them a noticeable lag in the physical and mental development, there are pronounced curvatures of large bones. Usually, changes affect only the lower extremities, leading to deformity in the varus or valgus type. In the first case, the legs of the child will be curved by the wheel, in the second - in the form of the letter "X". Both variants, of course, are unfavorable for the child's later life.

Fanconi syndrome in children often includes osteoporosis (premature destruction of bone tissue), as well as significant growth retardation. Fracture of long tubular bones and paralysis is not excluded. Even if the parents have not worried about the baby's condition, at this stage they will definitely not give up qualified help.

Fanconi syndrome in adults is rare. The thing is that this serious disease naturally leads to the development of renal failure. In this situation, it is impossible to give any unambiguous forecast and guarantee a long life expectancy. In the literature, cases are described where, at the age of 7-8 years, Fanconi syndrome gave in, there was a marked improvement in the child's condition and even recovery. Unfortunately, such options in modern practice are quite rare, so that you can draw some serious conclusions.

Diagnosis of Fanconi syndrome

In addition to collecting anamnesis and a thorough examination, the doctor will definitely appoint some examinations to confirm the disease. Fanconi syndrome inevitably leads to disruption of the kidneys, and so the usual urinalysis 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 the content in the urine of protein and leukocytes, but also to try to detect lysozyme, immunoglobulins and other substances. In the analysis, too, a high content of sugar (glucosuria), phosphates (phosphaturia), will show significant losses of substances important for the body. Such a survey can be carried out both out-patient and in a hospital.

In blood tests, too, some changes are inevitable. At biochemical research the decrease of almost all significant microelements is noted (first of all calcium and phosphorus). A pronounced metabolic acidosis develops that interferes with the normal functioning of the whole organism.

Radiography of the skeleton will show osteoporosis (destruction of bone tissue) and deformation of the limbs. In most cases, there is a lag in the growth rates of bones and their inconsistency with biological age. If necessary, the doctor can appoint ultrasound of the kidneys and other internal organs, as well as examination with related specialists.

Differential diagnosis

There are cases when some other diseases masquerade as Fanconi syndrome. Before the doctor there is a difficult task to understand, that occurs to the small patient actually. Sometimes glucoaminophosphate diabetic is confused with chronic pyelonephritis and other kidney diseases. Changes in the analysis of urine, as well as the characteristics of the lesion of the bone tissue will help the pediatrician to establish the correct diagnosis.

Treatment of Fanconi syndrome

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?

In the first place is the diet. Patients are advised to limit the use of salt, as well as all sharp and smoked foods. Milk and various fruit sweet juices are added to the diet. Do not forget about products rich in potassium (prunes, dried apricots and raisins). In the event that the micronutrient deficiency has reached a critical stage, doctors prescribe the reception of special vitamin complexes.

Against the background of the diet, large doses of vitamin D are administered. The patient's condition is constantly monitored - he must occasionally donate blood and urine for tests. This is necessary in order to timely detect the onset of hypervitaminosis and reduce the dose of vitamin D. Treatment is long, large courses, with interruptions. In most cases, such therapy helps restore the disturbed metabolism and prevent severe complications.

If the disease has gone far, the patient falls into the hands of surgeons. Experienced orthopedists will be able to straighten out bone deformities and significantly improve the child's standard of living. Such operations are performed only in case of persistent and long-term remission: at least one and a half years.

Forecast

Unfortunately, the prognosis in such patients is unfavorable. In most cases, the disease slowly progresses, sooner or later leading to renal failure. Deformations of the bones of the skeleton inevitably lead to disability and deterioration of the overall quality of life.

Can this pathology be avoided? Undoubtedly, such a question is of concern to anyone who has encountered the Fanconi syndrome. Parents try to understand what they did wrong and where they did not follow the child. It is equally important to know if the situation with other children is threatened. Unfortunately, preventive measures have not been developed at the moment. Couples planning to get another child, it is worth consulting with a geneticist to get more information about the exciting issue.

Wissler syndrome - Fanconi (allergic subsepsis)

This disease is described only in children from 4 to 12 years. 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 starts always sharply, with a rise in temperature, which for weeks can hold on to a figure of 39 degrees. In all cases, a polymorphous rash appears on the limbs, sometimes on the face, chest or stomach. Usually there is a recovery without any serious complications. However, a part of small patients with time develop severe joint damage, leading to disability.