Diseases

De Toni-Debre-Fanconi Syndrome – Causes, Symptoms & Treatment

De-Toni-Debre-Fanconi-Syndrom

De Toni-Debre-Fanconi syndrome is a genetic disease. This leads to reabsorption of various substances in the kidneys.

What is De Toni-Debre-Fanconi Syndrome?

De Toni-Debre-Fanconi syndrome is also known as De Toni-Debre-Fanconi complex , De Toni-Fanconi syndrome or glucose-amino acid diabetes . What is meant by this is a renal resorption disorder of the proximal tubule, which forms a section of the renal tubule. The De Toni-Debre-Fanconi syndrome is one of the hereditary diseases and results in the reabsorption of various substances.

These include other amino acids, glucose and inorganic phosphorus. As a result, there is a pathological excretion of glucose, phosphate and amino acids. The De Toni-Debre-Fanconi syndrome was first described by the Italian physician Giovanni de Toni (1896-1973) and the Swiss Guido Fanconi (1892-1979), who also gave the disease its name.

The De Toni Debre Fanconi syndrome is one of the rare diseases. Around 50 cases of the infantile type are known in Europe. However, secondary forms are more common.

causes

The De Toni-Debre-Fanconi syndrome can be divided into three different forms. This is the primary idiopathic Fanconi syndrome, which is inherited in an autosomal recessive manner, but can also occur spontaneously. The adult (adult) type Fanconi syndrome has a less severe course than the infantile-type Fanconi syndrome.

The third form is the secondary Fanconi syndrome. This occurs concomitantly with hereditary metabolic diseases such as cystinosis or Lowe’s syndrome . In addition, it is secondary to Sjögren’s syndrome , amyloidosis , tumors , poisoning or as an undesirable side effect of medication.

The De Toni-Debre-Fanconi syndrome is mostly a hereditary disease . While the infantile type of the syndrome is inherited in an autosomal recessive manner, the adult type is inherited in an autosomal dominant manner. In the case of a De Toni-Debre-Fanconi syndrome, there is a generalized resorption disorder of the proximal tubule. The pathomechanism of the syndrome has not yet been fully elucidated.

An ischemia-related ATP deficiency or a Na+/K+ATPase insufficiency is assumed. As a result, different substances such as glucose, amino acids or ions such as phosphate are no longer separated from the urine and excreted. This in turn leads to aminoaciduria , hypercalciuria including hypokalemia , hyperphosphaturia , which is associated with a disturbance in the phosphate balance, and glucosuria including osmotoic diuresis.

In addition to the hereditary form of De Toni-Debre-Fanconi syndrome, which is genetic, there is also an acquired form. This is caused by metabolic diseases such as fructose intolerance or Wilson’s disease , ischemia or nephrotoxic substances such as heavy metals or drugs.

Symptoms, Ailments & Signs

The symptoms of De Toni-Debre-Fanconi syndrome depend on whether it is an infantile or adult form of the disease. In the idiopathic primary syndrome, which occurs in childhood, symptoms such as short stature , fever attacks and vomiting appear between the ages of 2 and 3 . In addition, the sick children suffer from rickets , which is vitamin D-resistant.

There is also severe pain in the bones. Even fractures are possible. If the kidney failure (kidney weakness) that also occurs is not treated with blood washing (dialysis) or a kidney transplant, the affected child may even die.

If the symptoms of the De Toni-Debre-Fanconi syndrome only appear in adulthood, there are usually no life-threatening consequences to be feared. The adult form of the syndrome becomes noticeable through muscle hypotonia , polydipsia (pathological thirst) or softening of the bones ( osteomalacia ).

Furthermore, there is a risk of complications due to the deficiency states. These include low blood sugar ( hypoglycemia ), spontaneous bone fractures, neurological disorders and hypokalemic symptoms. Global renal failure can also occur.

Diagnosis & History

To diagnose De Toni-Debre-Fanconi syndrome, the examining doctor first looks at the patient’s medical history. He also carries out a physical examination and a laboratory medical examination. The urine status makes it possible to determine aminoaciduria or glucosuria.

In the case of multiple myeloma, proteinuria can be identified. The phosphate level in the blood serum is reduced. Sometimes hypokalemia can be detected. X-rays can be taken to diagnose secondary sequelae of De Toni-Debre-Fanconi syndrome to osteomalacia or rickets . Sometimes a kidney biopsy (tissue removal) is done.

The course of De Toni-Debre-Fanconi syndrome depends on its form. The prognosis of the infantile form is considered unfavorable, since without a kidney transplant, death occurs between ten and twelve years due to renal insufficiency. If, on the other hand, it is the adult form, which only appears in adult humans, life expectancy is normal.

When should you go to the doctor?

If symptoms such as short stature, fever attacks and vomiting are noticed between the second and third year of life, it may be the De Toni-Debre-Fanconi syndrome. A visit to the pediatrician is recommended if the symptoms do not go away on their own or if other symptoms appear. In general, a doctor should always be consulted if there are signs of a serious illness. In the event of severe bone pain or even fractures, the emergency services must be alerted or the affected child should be taken to the hospital.

The same applies to signs of renal insufficiency or rickets. If the symptoms only appear in adulthood, a doctor must be consulted with abnormal thirst, bone problems and other typical signs. Medical advice is required at the latest in the event of complications such as hypoglycaemia, neurological disorders or spontaneous bone fractures.

In addition to the family doctor , a specialist in hereditary diseases or an internist can also be consulted. In the case of non-specific symptoms, it is best to contact the medical emergency service first. However, a medical clarification is recommended in any case for the symptoms mentioned.

Treatment & Therapy

Both causal and symptomatic therapy are possible in the treatment of De Toni-Debre-Fanconi syndrome. If the patient suffers from the secondary form, the cause of the primary disease is treated. Standard therapy includes the administration of vitamin D3 or calcitriol to treat vitamin D-resistant rickets.

Hydrochlorothiazide is also given to reduce electrolyte loss through the kidneys. Many small meals that are rich in protein and carbohydrates are also considered helpful. In addition, the patient must drink one to three liters of liquid a day. At the same time, it is important to reduce the intake of table salt. It is also important to compensate for the loss of phosphate, potassium and sodium.

The acidosis is in turn compensated by buffer solutions. If there is a hereditary proximal disorder, only symptomatic therapy is possible, in which the patient receives sodium bicarbonate, phosphate, glucose and potassium. It is also important to have your kidneys and bones checked regularly.

Outlook & Forecast

Since the De Toni Debre Fanconi syndrome is a genetic disease, it cannot be treated causally, but only symptomatically. Self-healing does not occur in this syndrome.

Left untreated, De Toni-Debre-Fanconi syndrome can lead to complete renal failure, eventually leading to the death of the affected individual. The patients are then dependent on a donor kidney or on dialysis.

The syndrome can also lead to short stature, vomiting or various deficiency symptoms. The quality of life and life expectancy are significantly reduced. In children, the syndrome also leads to impaired and slowed development. Bone fractures and slower wound healing often occur.

De Toni-Debre-Fanconi syndrome can usually be treated relatively well with medication. This relieves all symptoms and leads to a positive course of the disease. However, patients are dependent on taking these drugs for life because the syndrome cannot be completely cured. Furthermore, regular examinations of the internal organs must be carried out in order to avoid complications. With early therapy and successful treatment, there is no reduction in life expectancy.

prevention

The De Toni Debre Fanconi syndrome is counted among the genetic diseases. Therefore, there are no preventive measures.

aftercare

In most cases, those affected with the De Toni-Debre-Fanconi syndrome have only a few options for direct aftercare. Those affected must consult a doctor at an early stage in order to avoid further complications. Since this is a genetic disease, it cannot be completely cured.

If there is a desire to have children, genetic counseling and testing can be useful to prevent the disease from recurring. Self-healing does not occur in De Toni-Debre-Fanconi syndrome. In most cases, patients with this disease have to take medication. It is always important to ensure that it is taken regularly with the correct dosage.

In the case of children, the parents must control the intake. Those affected should also drink plenty of fluids and avoid salt as much as possible so as not to put unnecessary strain on the kidneys. Since the De Toni Debre Fanconi syndrome can cause severe kidney problems, regular checks and examinations of the internal organs are very important. The bones and kidneys in particular must be checked. Whether the syndrome will lead to a reduced life expectancy of the patient cannot be universally predicted.

You can do that yourself

In addition to the genetically determined hereditary form of the De Toni-Debre-Fanconi syndrome, this also occurs in an acquired form. The patient himself cannot take any measures against the genetic variant of the disorder that would have a causal effect.

The infantile form of the disease, which usually becomes noticeable between the ages of two and three, is particularly serious. Parents should then insist that their child be treated by a doctor who has actually had experience with this rather rare disease. Specialists can be found through the medical association or with the help of the health insurance company.

Side effects of the frequently occurring short stature, such as tension , muscle pain or restricted motor skills , can usually be alleviated by early physiotherapy . As soon as the children begin to suffer mentally from short stature, a child psychologist should also be consulted.

If the disease is not genetic but acquired, the first thing to do is identify the trigger. These can be, for example, metabolic diseases, fructose intolerance or heavy metal poisoning. Drugs can also be responsible for acquired De Toni-Debre-Fanconi syndrome.

If the disease correlates with the patient’s lifestyle, for example diet or job, the patient must adjust to a change in lifestyle. If a modification of the diet is necessary, a nutritional specialist should be consulted . If the profession can no longer be exercised, the careers advice service of the Employment Agency should be used at an early stage. The trade unions also provide free advice in such cases.

Lisa Newlon
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Hello! I am Lisa Newlon, and I am a medical writer and researcher with over 10 years of experience in the healthcare industry. I have a Master’s degree in Medicine, and my deep understanding of medical terminology, practices, and procedures has made me a trusted source of information in the medical world.