AMONG the so-called inborn errors of metabolism as defined by Garrod 1 is a renal tubular defect originally described by Fanconi 2 in 1946 as nephrotic glycosuric dwarfism with hypophosphatemic rickets. Fanconi 3 later found this to be identical with what he termed cystine disease, or. because of the presence of increased amounts of acids other than cystine, amino acid diabetes. The syndrome is characterized by impaired renal tubular reabsorption of glucose, inorganic phosphate, and bicarbonate, as well as acids. Accompanying these defects in the kidney, and probably as a result of them, are acidosis and a negative calcium balance with the development of renal rickets. The increased losses of glucose may produce sufficient depletion of hepatic glycogen to produce a ketosis which enhances the acidosis. The amino-aciduria of this syndrome is the prominent feature which differentiates it from similar renal tubular defects, such as renal rickets or
Read full abstract