Toni–Fanconi syndrome
Toni–Fanconi syndrome is a rare, inherited disorder that primarily affects the kidneys. It is characterized by the inability of the kidneys to properly reabsorb nutrients and electrolytes into the bloodstream. This condition is named after Swiss pediatricians Guido Fanconi and Carlo Toni.
Symptoms[edit | edit source]
The symptoms of Toni–Fanconi syndrome typically begin in infancy or early childhood. They include excessive thirst and urination, failure to thrive, and growth retardation. Other symptoms may include bone deformities, rickets, and a condition known as renal tubular acidosis, which leads to a buildup of acid in the body.
Causes[edit | edit source]
Toni–Fanconi syndrome is caused by mutations in a number of different genes. Most cases are inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Diagnosis[edit | edit source]
Diagnosis of Toni–Fanconi syndrome is based on the clinical symptoms, laboratory findings, and genetic testing. The laboratory findings may include low levels of phosphate, glucose, and amino acids in the blood, and high levels of these substances in the urine.
Treatment[edit | edit source]
The treatment of Toni–Fanconi syndrome is aimed at managing the symptoms and preventing complications. This may include supplementation with electrolytes and vitamins, and medications to reduce the loss of substances in the urine. In severe cases, kidney transplantation may be necessary.
Prognosis[edit | edit source]
The prognosis for individuals with Toni–Fanconi syndrome varies. With early diagnosis and appropriate management, many individuals can lead a normal life. However, some may develop chronic kidney disease or end-stage renal disease.
See also[edit | edit source]
NIH genetic and rare disease info[edit source]
Toni–Fanconi syndrome is a rare disease.
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