What is characteristic for Fanconi syndrome? Causes, symptoms, diagnosis

This syndrome was first described by the Swiss pediatrician Tony Debre Fanconi, who diagnosed the disease in a child in 1931. In this case, the doctor described the disease in pieces, 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 (appearance of urine in the urine).

The causes of the Fanconi syndrome

Most often this disease is secondary, progressing in conjunction with other ailments. It also happens that Fanconi syndrome is the main disease, while it can be acquired and hereditary. The reasons may be:

• Congenital disorders of metabolic processes;
• Poisoning with heavy metals or toxic substances (mercury, lead, overdue tetracycline);
• The 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 disease. Fanconi's syndrome in women can be caused by a hormonal imbalance that occurs after childbirth.

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 a sharp shortage of useful substances (sodium, potassium, calcium) in a person.

Fanconi syndrome is especially dangerous for children, because it can cause irreversible disturbances in the structure of a young organism. Often in young patients there is a development of rickets, stunting and underdevelopment of muscles, which is a consequence of the lack of important minerals. In a complex disease can significantly reduce the level of immunity in the child, making it more susceptible to infectious diseases.

However, medical practice includes cases in which patients of different ages did not have any clinical signs of Fanconi syndrome. In this case, certain conclusions can be made only through the results of blood and urine tests.

Methods of diagnosing the disease

Confirm the presence of the syndrome in the patient is obtained with the help of specific laboratory studies of liquids (urine and blood), as well as using 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;
• Violation of transport systems in the renal tubules (which leads to the loss of alanine, glycine and proline);
• Metabolic acidosis (decrease in the concentration of bicarbonate in the blood).

Fanconi syndrome can be diagnosed with the help of special devices, for example, X-rays. In this case, violations and deformations of bone tissues and extremities in general are investigated. However, not all patients have such symptoms, so conducting a laboratory analysis should be considered a more reliable method of detecting the disease.

Treatment of the disease

Since this disease causes the main damage to the acid-base and electrolyte balance in the body, the treatment strategy should be aimed at correcting these indices. Patients are recommended to drink abundantly, special diets, which allow to restore the level of missing nutrients (calcium and phosphorus) and vitamin D.

In this case, it is necessary to distinguish between drug and non-pharmacological treatment of Fanconi syndrome. The first type is based on the use of drugs 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 indicators reach a normal level, the intake of the vitamin should be discontinued.

Non-drug treatment is based on diet therapy, which is limited to the use of salt and products that cause the loss of sulfur-containing amino acids. With a disturbed pH balance (acidosis), such measures 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 emergence of complications associated with kidney function. This is expressed in the form of a violation of the kidney parenchyma (a specific tissue that envelops the body). These changes may be the cause of pyelonephritis and kidney failure.

Prophylactic devices in this case are similar to the method of non-drug treatment: the patient must constantly maintain in his diet the content of certain useful substances and minerals.

The presence of such a disease in relatives and family members can mean its transfer to the younger generation, because Fanconi syndrome is a hereditary disease. If such connections really exist, it is necessary to conduct in-depth analyzes of blood and urine in children.

Fanconi syndrome in dogs

Since this disease is not the result of exposure to foreign microorganisms and viruses, it is impossible to get it from the carrier. Syndrome, rather, is the result of the pathological weakness of the kidneys in certain people. And animals, it is worth noting, at least in dogs, this disease is also diagnosed.

The presence of a similar syndrome in dogs was diagnosed later than the corresponding human disease. Nevertheless, they are quite similar in their features.

Not all breeds of dogs are susceptible to this disease. She was seen in beagles, whippets and Norwegian moose dogs. Most often veterinarians diagnosed Fanconi syndrome in the Basenji, one of the oldest breeds of dogs.

The effect of the syndrome on the dog's organism

As in the case of a person, this disease strikes a blow to the kidneys of the animal. The level of the content of nutrients in the blood suffers, and unnatural compounds and minerals appear in the urine. The dog's body begins to excrete amino acids and vitamins along with feces, which leads to the formation of disorders of the muscles and organs.

Prolonged exposure to this disease can lead to severe weight loss, dehydration of the animal's body and even death. The muscles of the dog begin to gradually become atrophied due to the lack of the right amount of substances in the blood, so the diseased beast ceases to be active.

Symptoms of a syndrome in dogs

The main signs of the onset of the disease should be considered abundant fluid intake and equally profuse urination. The organism of the animal tries to restore the water balance, which leads to a constant unhealthy liquid exchange.

In the process, the dog begins to lose weight, even under the condition of constant and abundant nutrition. There is a loss of hair, loss of energy and mobility. A sick animal can 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 a human), but somewhere in the middle, in the end of the life cycle (between the 5th and 7th year). For Basenji, this age is especially critical, because more than 50% of dogs begin to suffer from such a disease in this period. Therefore, the owners of this breed of dogs should be extremely careful, in order to predict the appearance of the syndrome.

Test-marker of syndrome 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 test animal can be completely free from the likelihood of the disease, may be the actual carrier of the disease or be susceptible to it.

Most nurseries engaged in breeding Basenji, have in their arsenal of similar expertise, which allows customers to count on the purchase of a healthy puppy. It is interesting that the Internet contains whole databases, which contain registered puppies of different nurseries and the results of this testing in each individual case.

The developers of this laboratory analysis say that the test is not an unambiguous indicator of the puppy's susceptibility to the disease. Nevertheless, in 90% of cases the result obtained is true.

The same name Wissler-Fanconi syndrome

Wissler-Fanconi syndrome in children is a disease that has nothing to do with the ailment considered in this article. This pathology can be observed in a child aged from three to seven years, although there are documented cases of the syndrome and at an earlier age (almost in the first weeks of life).

This syndrome was diagnosed by physicians Wiesler and Fanconi at different times and places around the world, which is why it has a name that includes the names of both doctors, not Wissler syndrome or Fanconi syndrome. The photo posted in this article perfectly reflects the symptoms of the disease, namely allergic reactions. In addition, a sick child can be fevered, and joints often begin to ache and swell. The treatment package includes the use of antibiotics and salicylates.