What is fanconi syndrome?
Fanconi syndrome is an inherited disorder of the energy budget of the proximal tubule cells of the kidney, which leads to a dysfunction of this organ and other symptoms. Glucose (dextrose), phosphate and amino acids are reabsorbed in a too small extent, so that it comes to electrolyte disturbances and the pH of the people concerned. In urine, there are pathological protein and amino acid values.
The Fanconi syndrome was described in 1931 for the first time and goes to the Italian Giovanni De Toni back (1896-1973) and the Swiss pediatrician Guido Fanconi (1892-1979). The Debré-de Toni-Fanconi syndrome is not identical to the Fanconi anemia. On several known syndromes Fanconi go back.
Differences are:
-Fanconi syndrome of infantile type, the primary (idiopathic) Fanconi syndrome. This usually occurs spontaneously, but is inherited as an autosomal recessive trait.
-Fanconi syndrome of adult type with less severe disease. The life expectancy is normal here.
-Secondary Fanconi syndrome as accompanying disease in inherited metabolic diseases such as Lowe syndrome, cystinosis, and other genetic diseases. But also in the secondary amyloidosis, Sjogren's syndrome, tumors, as an undesirable effect of drugs or poisoning.
Fanconi syndrome symptoms
It is frequently found in the blood acidosis. The growth of children affected is delayed, it can lead to dehydration (dehydration). By the renal phosphate loss demineralize the bone, it results in a vitamin D-resistant rickets in general physical weakness.
Therapy
Therapeutically may be helpful in renal disease matched protein and phosphate diet.
The disease also plays a role in veterinary medicine.