Modern Views on de Toni — Debre — Fanconi Syndrome: the Literature Data and Case Report

Introduction. In the article features of clinical course of de Toni — Debre — Fanconi disease (syndrome) in children of different age, depending on form of the disease are represented. The objective of investigation was to study clinical peculiarities of the syndrome in childhood. Materials and Methods. Data of foreign literature on this problem for the last 5–10 years are shown. Case report of the disease in 16-year-old patient is described. Results and Discussion. It was proved that this syndrome has autosomal-recessive pattern of inheritance. It is rare in population, and injures mostly bone tissues, kidneys. This condition, in turn, has significant influence at the development and height of the child in general. Clinical features of the syndrome, besides signs of rickets, include: polyuria, polydypsia, growth inhibition, and different degrees of dehydration. Laboratory findings in children with de Toni — Debre — Fanconi syndrome demonstrates presence of proteinuria, hypophosphatemia, hypokalemia and metabolic acidosis. Treatment involves replacement therapy depending on the metabolic imbalance, as well as administration of diuretics and vitamin D metabolites. In our case, the patient received an adequate dose of vitamin D for therapeutic purposes, metabolic products, as well as a course of massage and physical therapy. Conclusions. De Toni — Debre — Fanconi syndrome is a rare enzymopathy, mainly affecting bone, spine, kidneys. Knowledge of the characteristics of the disease in different age periods greatly help the clinician in establishing diagnosis, involvement of highly specialized doctor, developing an adequate treatment strategy.