[citation needed] Different forms of Fanconi syndrome can affect different functions of the proximal tubule, and result in different complications.

[3] The clinical features of proximal renal tubular acidosis are:[citation needed] Other features of the generalized proximal tubular dysfunction of the Fanconi syndrome are:[citation needed] In contrast to Hartnup disease and related tubular conditions, Fanconi syndrome affects the transport of many different substances, so is not considered to be a defect in a specific channel, but a more general defect in the function of the proximal tubules.

[citation needed] It was shown that a specific mutation (R76W) of HNF4A, a gene encoding a transcription factor, causes Fanconi syndrome in human.

[9] Deletion of Hnf4a in the developing mouse kidney caused Fanconi syndrome phenotypes including polyruia, polydipsia, glycosuria, and phosphaturia.

[citation needed] Treatment of children with Fanconi syndrome mainly consists of replacement of substances lost in the urine (mainly fluid and bicarbonate).

[citation needed] It is named after Guido Fanconi, a Swiss pediatrician, although various other scientists, including George Lignac, contributed to its study.[when?]