Symptoms and causes of Fanconi syndrome in adults and children

- congenital or acquired diffuse disorder of the proximal convoluted renal tubules in conjunction with generalized hyperaminoaciduria, glycosuria, hyperphosphaturia, and also loss of biocarbonate and water with urine. We will describe this rickets-like disease and its causes in the following article.

Expression features

fanconi syndrome

Tony-Debre-Fanconi syndrome is expressed, tubular disorganization. Experts emphasize a number of features of the expression of the disease:

  • Reducing the amount of calcium in the blood plasma.
  • Disorder acidic environment.
  • The occurrence of an increased degree of sugar in the blood.
  • Raised alkaline phosphatase energy.

Species

A congenital disease, as a rule, is united with the X chromosome. Also, experts note that de Tony-Debreux-Fanconi syndrome may be complete with 3 fundamental biochemical defects. These include glucosuria, aminoaciduria and phosphate. It is incomplete if 2 of the 3 main symptoms are present.

If the disease is attributed to the congenital type, then the determination of the presence of Fanconi syndrome occurs in a baby in infancy. Therefore, the primary form is referred to as "infant." It is characteristic to foresee whether the disease is inherited is a difficult task.

According to numerous reviews of experts, one of the main and proven reasons for the formation of Fanconi syndrome is the intoxication of the body with lead and mercury. Consequently, the risk group may include employees of chemical enterprises.

Also, the cause of the formation of pathology can be excessive consumption of medications, including the means used for chemotherapy.

Clinical picture

The first signs of Fanconi syndrome are manifested in children in the second half of their lives - the kids are apathetic, have poor appetite, vomiting, subfebrileidity, hypotension, dehydration are noted. Deployed symptom complex develops to the second year of existence. If the disease is expressed in 5-6 years, then the main signs are signs of osteomalacia, bone deformities and hypokalemic paralysis.

From the second year of existence, Fanconi syndrome in children is manifested by a slowdown in physical and mental formation, generalized decalcification occurs, which is manifested by bone curvatures of the legs, chest, forearm and humerus, and a decrease in muscle tone.

tony debre fanconi syndrome

With this manifestation of pathology, the patient feels some difficulties in the process of walking, which can also be expressed in the occurrence of bright painful sensations. Such signs can manifest themselves primarily due to the sedentary mode of life.

As a rule, bone fragility is observed in patients with this diagnosis, which is a consequence of a lack of minerals in the bone tissues. As a result, they are at risk of frequent fractures.

Symptomatology

According to experts, the disease can be intensively formed against the background of another disease. For example, against the background of cystinosis. Symptoms in this case are expressed in the suspension of maturation and development. As a rule, the symptoms are complemented by focal depigmentation in the retina. Also noted is the formation of interstitial nephritis,which contributes to the development of liver failure.

fanconi syndrome symptoms

Symptoms of Hereditary Syndrome

Signs of Fanconi syndrome can manifest themselves in the first months of life. As a result of manifestations of the disease, the patient may experience the following symptoms:

  • frequent urination;
  • increased thirst;
  • prolonged constipation;
  • the frequent occurrence of the urge to vomit, for no reason;
  • excessive fatigue;
  • muscle weakness;
  • sudden increase in temperature;
  • flatulence.

When a baby has vomiting and body temperature rises, it is necessary to immediately visit a doctor. As a rule, a highly qualified specialist can determine the symptoms inherent in ARVI and Fanconi syndrome. If any suspicion arises, the patient is sent for additional tests.

de tony debre fanconi syndrome

When the progression of the described disease occurs, it is possible to single out the following symptoms:

  • Early nanizm. As a rule, natural growth and weight is replaced by a deficiency of these indicators.
  • Rickets. This kind of pathology triggered by the direct elimination of calcium and phosphate.With the formation of rickets, the head of the child in most cases has minor modifications, but the large bones of the limbs have obvious modifications. The chest and spine are also deformed.
  • No delays in mental and physical development. The child, in most cases, becomes notorious, closed.
  • Muscular hypotonia is noted. And the pain that occurs in the bones, as a rule, impede the normal movement of the patient.
  • There is a destruction of bone tissue.
  • Reducing the protective functions of the body.
  • Formed pathology of the central nervous system, gastrointestinal tract, cardiovascular system.

Acquired Fanconi Syndrome in Patients of Different Age Categories

fanconi syndrome symptoms in adults

In most cases, in mature patients this ailment is formed as a consequence after severe intoxication of the body or after difficult healing.

With the diagnosis of "Fanconi syndrome", the symptoms in adults are manifested in the amount and density of lost urine. Also inherent in the patient:

  • weakness;
  • lethargy;
  • apathy;
  • drowsiness;
  • the occurrence of pain in the muscles.

According to statistics, recurrent syndrome in most cases, women are ill after 55 years. During the course of the disease, an immediate loss of phosphorus and other trace elements is noticed. As a rule, the presence of such signs leads to the development of osteoporosis, as a result of which compression fractures of the vertebrae and tubular bones occur.

As evidenced by the numerous reviews of specialists, quite often patients with such a diagnosis become disabled.

fanconi syndrome in children

The basic signs of illness can be counted:

  • Increased urine output, with acute thirst.
  • General and muscular weakness, soreness in the bones.
  • The apparent destruction of bones.
  • Increased blood acidity. The basis of such manifestations is the immediate delay of oxidation products in the body, which provokes a deficiency of potassium.
  • Increased deposition of calcium salts in the kidneys. This condition is accompanied by fever, chills, nausea, severe pain in the abdomen.
  • Formation of cardiac complications, often leading to arrhythmias.
  • The rapid emergence of prolonged kidney failure.

Diagnostics

The manifestation of the disease in patients of different age groups is the reason for certain diagnostic procedures. As a rule, it is the study of urine for direct content of glucose, phosphate and amino acids.

Which amino acids indicate the presence of Fanconi syndrome can only be answered by a specialist, since the genetic code table is used for such purposes.

Diagnosis is usually made when kidney function pathology is detected.

what amino acids indicate the presence of fanconi syndrome

To directly assess the general condition of the patient, doctors use x-rays of the bones. This study allows you to see how the patient’s bone lagging progresses. And to determine the severity of the disease will help radioisotope research. In addition, a biopsy is used, which allows to determine the level of injury to the tissues of the kidneys.

Treatment of ailment

Treatment of Fanconi syndrome is aimed at direct correction of hypokalemia and electrolyte disorders. Patients are generally recommended to drink plenty of fluids during phosphate diabetes therapy.

With secondary Fanconi syndrome, symptoms decrease or fully disappear with effective therapy.

Diet therapy

As a rule, drug therapy is complemented by diet. The patient's diet includes dishes based on potatoes and cabbage. Also, experts recommend minimizing salt intake. The daily menu is allowed to include dairy products. Diet therapy is supplemented with drugs with vitamin D.

Disease prevention

In order to avoid the primary disease, before conceiving a child, parents with a compromised family history should undergo a medical consultation without fail. Since, according to statistical data, with the existing predisposition to this pathology, the birth of a sick child is about 25%.

Many doctors say that it is better to prevent the disease than to treat it later. Consequently, it is necessary to conduct a regular medical examination, which will help determine its early stages in a timely manner.

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