This syndrome was first described by the Swiss pediatrician Tony Debre Fanconi, who diagnosed this disease in a child in 1931. At the same time, the doctor described the disease piece by piece, gradually revealing certain symptoms and elements of the syndrome, the main of which should be considered glycosuria (the presence of glucose in the urine) and albuminuria (the appearance of protein in the urine).
Causes of Fanconi syndrome
Most often this disease is secondary, progressing in combination with other ailments. It also happens that Fanconi syndrome is the main disease, while it can be acquired and hereditary. Reasons may be:
- congenital disorders of metabolic processes;
- poisoning with heavy metals or toxic substances (mercury, lead, expired tetracycline);
- appearance of malignant tumors and tumors (various types of cancer);
- vitamin D deficiency.
Sometimes a similar syndrome can occur as a complication after burns or some kidney diseases. Fanconi syndrome in women can be caused by a hormonal imbalance that occurs afterchildbirth.
Main symptoms
Symptoms of the syndrome vary depending on the age of the patient. For adults, the first signs of the disease are: profuse urination, weakness in the muscles and pain in the bones and joints. This effect is explained by the fact that the disease causes an acute shortage of nutrients (sodium, potassium, calcium) in a person.
Fanconi syndrome is especially dangerous for children, because it can cause irreversible damage to the structure of a young organism. Often, young patients develop rickets, growth retardation and muscle underdevelopment, which is a consequence of a lack of important minerals. In combination, the disease can significantly reduce the level of immunity in a child, making him more susceptible to infectious diseases.
However, medical practice contains cases where patients of different ages did not have any clinical signs of Fanconi syndrome. In this case, certain conclusions can only be drawn from the results of blood and urine tests.
Methods for diagnosing a disease
Confirm the presence of the syndrome in a patient is obtained with the help of specific laboratory tests of fluids (urine and blood), as well as with the help of X-ray examination of bones and joints. Most often, the analysis card indicates the presence of certain pathologies in biochemistry.
Fanconi syndrome is characterized by:
- decrease in the level of calcium and phosphorus in the blood;
- impaired transport systems in the renal tubules (resulting in loss of alanine, glycine and proline);
- metabolic acidosis (decreased levels of bicarbonate in the blood).
Fanconi syndrome can also be diagnosed with the help of special devices, such as x-rays. In this case, violations and deformations of bone tissues and limbs as a whole are examined. However, not all patients have these signs, so laboratory analysis should be considered a more reliable method of detecting the disease.
Method of treating the disease
Because this disease causes major damage to the acid-base and electrolyte balance in the body, the treatment strategy should be aimed at correcting these indicators. Patients are advised to drink plenty of water, special diets that allow you to restore the level of missing nutrients (calcium and phosphorus) and vitamin D.
In this case, one should distinguish between drug and non-drug treatment of Fanconi syndrome. The first type is based on the use of preparations containing vitamin D3. The use of this particular group leads to an increase in the content of phosphorus and calcium in the blood. When these values reach normal levels, the vitamin should be discontinued.
Non-drug treatment is based on dietary therapy, which is to limit the intake of s alt and foods that cause the loss of sulfur-containing amino acids. With a disturbed pH balance (acidosis) of suchmeasures may not be enough, so the patient is prescribed additional courses of medication.
Prognosis and prevention of disease
The prognosis of Fanconi syndrome is closely related to the occurrence of complications associated with the functioning of the kidneys. This is expressed in the form of a violation of the parenchyma of the kidney (specific tissue that envelops this organ). These changes can cause pyelonephritis and kidney failure.
Prophylactic methods in this case are similar to non-drug treatment: the patient must constantly maintain the content of certain nutrients and minerals in his diet.
The presence of such a disease in relatives and family members may mean its transmission to the younger generation, because Fanconi syndrome is also a hereditary disease. If such links really exist, in-depth blood and urine tests in children are needed.
Fanconi syndrome in dogs
Since this disease is not the result of exposure to third-party microorganisms and viruses, it is impossible to catch it from a carrier. The syndrome, rather, is the result of pathological weakness of the kidneys in certain people. And animals, it is worth noting, at least dogs are also diagnosed with this disease.
The presence of a similar syndrome in dogs was diagnosed later than the corresponding human disease. Nevertheless, they are quite similar in their characteristics.
Not all breeds of dogs are susceptible to this disease. She was seen with beaglesWhippets and Norwegian Moose Dogs. Most often, veterinarians diagnose Fanconi syndrome in Basenji, one of the oldest breeds of dogs.
The effect of the syndrome on the dog's body
As in the case of humans, this disease strikes at the animal's kidneys. The level of nutrients in the blood suffers, and compounds and minerals that are unnatural for this environment appear in the urine. The dog's body begins to excrete amino acids and vitamins along with feces, which leads to the formation of muscle and organ dysfunction.
Prolonged exposure to this disease can lead to dramatic weight loss, dehydration and even death. The muscles of the dog begin to gradually atrophy due to the lack of the required amount of substances in the blood, so the sick animal ceases to be active.
Signs of Canine Syndrome
The main signs of the onset of the disease should be considered abundant fluid intake and equally abundant urination. The body of the animal tries to restore the water balance, which leads to a constant unhe althy exchange of fluid.
In the process, the dog begins to lose weight, even with constant and abundant food. There is hair loss, loss of energy and mobility. A sick animal may feel pain in the joints and bones. It is noteworthy that the disease often manifests itself not in the early stages of a dog's life (unlike humans), but somewhere in the middle, the end of the life cycle (between the 5th and 7th years). Forbasenji, this age is especially critical, because more than 50% of dogs begin to suffer from a similar ailment during this period. Therefore, the owners of this breed of dogs should be extremely careful in order to predict the appearance of the syndrome.
Syndrome Test Marker for Dogs
This probe was developed by scientists in July 2007. It allows you to identify the gene responsible for the occurrence of Fanconi syndrome in a dog. In this case, the tested animal may be completely free from the likelihood of the disease, may be the actual carrier of the disease or be susceptible to it.
Most basenji kennels have this expertise in their arsenal, which allows buyers to count on getting a he althy puppy. Interestingly, the Internet contains entire databases in which registered puppies from various kennels are presented and the results of this testing in each individual case.
The developers of this laboratory test say that the test is not an unambiguous indicator of a puppy's susceptibility to the disease. However, 90% of the time the result is correct.
Wissler-Fanconi syndrome of the same name
Wissler-Fanconi syndrome in children is a disease that has nothing to do with the disease discussed in this article.
This pathology can be observed in a child between the ages of three and seven, although there are documented cases of the syndrome occurring at an earlier age(almost in the first weeks of life).
This syndrome was diagnosed by doctors Wiessler and Fanconi at different times and in different parts of the globe, which is why it has a name containing the names of both doctors, and not Wissler's syndrome or Fanconi's syndrome. The photo posted in this article perfectly displays the symptoms of the disease, namely allergic reactions. In addition, a sick child may have a fever, and the joints most often begin to hurt and swell. The complex of treatment includes the use of antibiotics and salicylates.
