De Toni Fanconi Syndrome
| Classification according to ICD-10 | |
|---|---|
| E72.0 | Disorders of amino acid transport (De-Toni-Debré-Fanconi complex) |
| ICD-10 online (WHO version 2019) | |
The Fanconi syndrome (also Debré de Toni-Fanconi syndrome , Fanconisyndrom , Debré Toni-Fanconi syndrome , syn. De Toni-Fanconi complex , glucose-amino-diabetes ) is an inherited or Acquired dysfunction of the energy balance of the proximal tubular cells of the kidney , which leads to a dysfunction of this organ and other symptoms. Glucose (grape sugar), phosphate and amino acids are reabsorbed to a small extent, so that there is disruption in the electrolyte balance and the pH value of the person affected. In urine , there are pathological protein and amino acid levels -.
De Toni Fanconi syndrome was described for the first time in 1931 and goes back to the Italian Giovanni De Toni (1896–1973) and the Swiss pediatrician Guido Fanconi (1892–1979). Debré de Toni Fanconi syndrome is not the same as Fanconi anemia . Several well-known syndromes can be traced back to Fanconi .
A distinction is made between:
- Fanconi syndrome of the infantile type, the primary (idiopathic) Fanconi syndrome. This usually occurs spontaneously, but is also an autosomal - recessive inherited.
- Fanconi syndrome of the adult type with a less severe course. The life expectancy is normal here.
- Secondary Fanconi syndrome as a concomitant disease in inherited metabolic diseases such as Lowe's syndrome , cystinosis and other hereditary diseases. But also secondary to amyloidosis , Sjogren's syndrome , tumors , as an undesirable effect of drugs or poisoning.
Symptoms
Acidosis is common in the blood . The growth of the affected children is delayed; polyuria with corresponding dehydration (dehydration, desiccosis ) can occur. Renal phosphate loss causes the bones to demineralize, which leads to vitamin D- resistant rickets and general physical weakness.
therapy
A protein- and phosphate-rich diet adapted to the kidney disease can be helpful therapeutically.
The disease also plays a role in veterinary medicine .
