De Toni Debré Fanconi syndrome, also known as De Toni-Debré-Fanconi syndrome or Fanconi syndrome type 3 or 4, is a rare genetic disorder that affects the kidneys and various other organs in the body. It is characterized by impaired kidney function, leading to the inability to properly reabsorb certain substances that are usually retained by the kidneys, such as glucose, amino acids, electrolytes, and phosphate.
This syndrome is named after the three physicians who first described it: Guido Fanconi, a Swiss pediatrician, as well as Pierre De Toni and Charles Debré, who were French physicians. De Toni Debré Fanconi syndrome is inherited in an autosomal recessive pattern, which means that both parents must pass on a copy of the defective gene for the syndrome to manifest in their child.
Symptoms of this syndrome can vary but commonly include excessive urination (polyuria), excessive thirst (polydipsia), poor growth and development, weakness, bone issues such as rickets or osteomalacia, and electrolyte imbalances. If left untreated, it can lead to severe complications, including kidney failure.
The exact genetic mutations responsible for De Toni Debré Fanconi syndrome are not well-understood, although it is known to involve mutations in genes that code for transport proteins responsible for reabsorbing substances in the kidneys. Diagnosis typically involves a combination of clinical examination, urinalysis, blood tests, and genetic testing.
Treatment often involves managing the symptoms and complications associated with the syndrome. This may include measures to maintain fluid and electrolyte balance, provide proper nutrition, and supplement with medications as needed. In some cases, kidney transplantation may be necessary. The prognosis for individuals with De Toni Debré Fanconi syndrome can
