Familial renal Fanconi Syndrome is a genetic model for the study of the pathophysiology of renal tubular transport.
Affected individuals are normal at birth.
However, during the second decade of life they develop polyuria, and loss of proximal tubular function results in rickets. With increasing age, these individuals may develop renal failure. Therapy for renal Fanconi Syndrome consists of symptomatic supplementation therapy, dialysis, and kidney transplantation. The isolation of the affected gene should initially facilitate postnatal and prenatal diagnosis of renal Fanconi Syndrome. Long term, the isolation of this gene and its gene product will allow the study of the pathophysiology of renal Fanconi Syndrome.