V.M. Lisovyi, N.M. Andonieva, M.M. Poliakov

Features of diagnostics of fanconi’s nephronophthisis at the patient with the uremic syndrome which undergone related kidney transplantation

Clinical observation of the child with Fanconi’s nephronophthisis, diagnosed at end-stage kidney disease is described. The late request for a medical care, and also a polymorphism of displays of terminal uremia considerably complicated and slowed down diagnostics of dysfunction of kidneys. Cooperation of nephrologists, geneticists, transplantologists gave the chance even at overdue diagnostics to provide an adequate medical care. Related kidney transplantation became a choice method in correction of an uremic syndrome and provided medico-social rehabilitation of the child with Fanconi’s nephronophthisis.