Pediatric fanconi syndrome

Abstract

Fanconi syndrome (FS) is a generalized dysfunction of the renal proximal tubules leading to excessive urinary wasting of amino acids, glucose, phosphate, uric acid, bicarbonate, and other solutes. The patients develop failure to thrive, polyuria, polydipsia, dehydration, and rickets in children, and osteoporosis and osteomalacia in adults. The patients also manifest renal salt wasting, hypokalemia, metabolic acidosis, hypercalciuria, and low-molecular-weight (LMW) proteinuria. De Toni, Debré, and Fanconi described children with renal rickets and glucosuria in the 1930s (De Toni, Acta Paediatr. 16:479–84, 1933; Debré et al., Arch Med Enf. 37:597–606, 1934; Fanconi, Jahrb Kinderheilkd. 133:257–300, 1931). FS is named after Guido Fanconi, a Swiss pediatrician, or is alternatively called “De Toni-Debré-Fanconi” syndrome.