Fanconi syndrome historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
Overview
Fanconi syndrome is nominated after the name of professor Guido Fanconi, who first explained the characteristics of the disease in 1931. He investigated and proposed the possible links between dwarfing and hypophosphataemic rickets to renal glycosuria in children suffering from the disease.
Historical Perspective
Discovery
- Simultaneous rickets and albuminuria due to kidney disease was first described in 1881 referred as ‘disorder of adolescence', but the precise mechanism remained unknown[1].
- Fanconi syndrome was first explained as a renal proximal tubule defect with details by Guido Fanconi, a swiss pediatrician ,in 1931[2].
- Besides Dr. Fanconi, the clinical charactristics of the disease were further studied by Debre and De toni, that’s why the disease is also called Debre-De Toni-Fanconi syndrome[3][4].
- in 1949 Professor Fanconi and his assistant Dr. Horst Bickel, described a rare type of Glycogen storage disease characterized by GLUT2 glucose transporter mutations which leads to liver, pancreas and kidney failure. The disease was further named Fanconi-Bickel syndrome, Although the renal involvment of this syndrome is mostly the renal Fanconi syndrome, but these two syndromes are separate diseases[5].
- Later on, the syndrome clinical characteristics were studied by many other scientists. As the Fanconi syndrome can result from many genetic disorders with various etiologies, effect of drugs and substances on the kidney, and also is one of the characteristics included in many complicated syndromes, the details of pathophysiology and genetic perspective of the disease is becoming more evident gradually from 40s decade.
- Even now in 2017 there are novel mutations and genetic loci discovered leading to the disease[6].
Landmark Events in the Development of Treatment Strategies
- in 1950s, General treatment aspects of the disease(replacement therapy) was first proposed and is still remains as the main therapeutic approach[7].
- Specific therapies modifying the underlying diseases continued to be introduced with the progression of disease comprehension.