This syndrome was first described by a Swiss pediatrician Tony Debre Fanconi, who diagnosed this disease in a child in 1931. At the same time, the doctor described the disease in pieces, gradually identifying 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. The reasons may be:
- congenital metabolic disorders;
- poisoning by heavy metals or toxic substances (mercury, lead, expired 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 syndrome in women can be caused by 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: excessive 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 useful substances (sodium, potassium, calcium) in humans.
Fanconi's syndrome is especially dangerous for children, as it can cause irreversible disturbances in the structure of the young organism. Often, young patients develop rickets, stunted growth and underdevelopment of muscles, which is a consequence of a lack of important minerals. In the complex, the disease is able to significantly reduce the level of immunity in a child, making it more susceptible to infectious diseases.
However, medical practice contains cases when patients of different ages lacked any clinical signs of Fanconi syndrome. In this case, certain conclusions can be made only thanks to the results of blood and urine tests.
Diagnosis Methods
Confirm the presence of the syndrome in the patient is obtained using specific laboratory tests of fluids (urine and blood), as well as using x-ray examination of bones and joints. Most often, a test card indicates the presence of certain pathologies in biochemistry.
Fanconi syndrome is characterized by:
- a 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 (a decrease in the level of bicarbonate concentration 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 limbs as a whole are investigated. However, not all patients have such symptoms, therefore, laboratory analysis should be considered a more reliable method for detecting the disease.
The method of 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 indicators. Patients are advised to drink plenty of fluids, special diets that can restore the level of missing nutrients (calcium and phosphorus) and vitamin D.
In this case, it is necessary to 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 indicators reach normal levels, vitamin intake should be discontinued.
Non-drug treatment is based on diet therapy, which boils down to limiting the use of salt and foods that cause the loss of sulfur-containing amino acids. With a disturbed pH balance (acidosis), such measures may not be enough, so additional courses of drugs are prescribed to the patient.
Prediction and prevention of the disease
The prognosis of Fanconi syndrome is closely related to the occurrence of complications associated with kidney function. This is expressed in the form of a violation of the kidney parenchyma (a specific tissue that envelops this organ). These changes can cause pyelonephritis and renal failure.
Preventive methods in this case are similar to the non-drug treatment method: the patient must constantly maintain in his diet the content of certain useful substances and minerals.
The presence of a similar disease in relatives and family members can mean its transmission to the younger generation, because Fanconi syndrome is also a hereditary disease. If such relationships really exist, it is necessary to conduct in-depth blood and urine tests in children.
Fanconi syndrome in dogs
Since this disease is not the result of exposure to third-party microorganisms and viruses, it is impossible to get infected from the carrier. The syndrome, rather, is the result of pathological kidney weakness 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 characteristics.
Not all dog breeds are susceptible to this disease. She was seen in the Beagles, Whippets and Norwegian moose dogs. Most often, veterinarians diagnose Fanconi syndrome in Basenji, one of the oldest dog breeds.
The impact of the syndrome on the dog's body
As in the case of humans, this disease strikes the animal’s kidneys. The level of beneficial substances in the blood suffers, and in the urine compounds and minerals unnatural for this environment appear. The dog's body begins to excrete amino acids and vitamins along with bowel movements, which leads to the formation of disorders of the muscles and organs.
Continued exposure to this disease can lead to dramatic weight loss, dehydration of the animal, and even death. The muscles of the dog begin to gradually atrophy due to the lack of the right amount of substances in the blood, so the sick beast ceases to be active.
Signs of Dog Syndrome
The main signs of the onset of the disease should be considered abundant fluid intake and equally profuse urination. The animal body tries to restore water balance, which leads to a constant unhealthy fluid metabolism.
In the process, the dog begins to lose weight, even with constant and abundant nutrition. Hair loss, loss of energy and mobility are observed. 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, at 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 a similar ailment in this period. Therefore, the owners of this breed of dogs should be extremely careful in order to predict the appearance of the syndrome.
Dog Syndrome Test Marker
This probe was developed by scientists in July 2007. It allows you to identify the gene responsible for the occurrence of Fanconi syndrome in dogs. Moreover, the test animal can be completely free from the likelihood of the disease, it can be the actual carrier of the disease or be subject to it.
Most kennel breeding basenji have a similar expertise in their arsenal, which allows buyers to rely on a healthy puppy. Interestingly, the Internet contains entire databases in which registered puppies of various nurseries are presented and the results of this testing in each individual case.
The developers of this laboratory analysis say that the test is not a unique indicator of the puppy's exposure to the disease. Nevertheless, in 90% of cases, the result obtained is true.
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 aged three to seven years, although there are documented cases of the syndrome at an earlier age (almost in the first weeks of life).
This syndrome was diagnosed by doctors Wiesler 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 syndrome or Fanconi 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.