Fanconi syndrome historical perspective
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vahid Eidkhani, M.D.
Overview
Fanconi syndrome is nominated after the name of professor Guido Fanconi, who first explained the detailed characteristics of the disease in 1931[1]. He investigated and proposed the possible links between dwarfing and hypophosphataemic rickets to renal glycosuria in children suffering from the disease[2][1].
Historical Perspective
Discovery
- Simultaneous rickets and albuminuria due to kidney disease were first described in 1881 referred ‘disorder of adolescence', but the precise mechanism remained unknown[3].
- Fanconi syndrome was first explained as a renal proximal tubule defect with details by Guido Fanconi, a Swiss pediatrician, in 1931[1].
- Besides Dr. Fanconi, the clinical characteristics of the disease were further studied by Debre and De Toni, that’s why the disease is also called Debre-De Toni-Fanconi syndrome[4][5].
- 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 involvement of this syndrome is mostly the renal Fanconi syndrome, these two syndromes are separate diseases[6].
- 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, drugs and substances effect on the kidneys, 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[7].
- Even now in 2017, there are novel mutations and genetic loci discussed leading to the disease[8].
Landmark Events in the Development of Treatment Strategies
- in 1950s, Mianstay treatment approach to the disease(replacement therapy) was first discussed and is still remains as the main therapeutic approach[9].
- Specific therapies modifying the underlying diseases continued to be introduced with the progression of disease comprehension.
References
- ↑ 1.0 1.1 1.2 Fanconi G. Die nicht diabetischen Glykosurien und Hyperglykaemien des aelteren Kindes. Jahrbuch fuer Kinderheilkunde 1931; 133: 257–300
- ↑ Fanconi G. Der nephrotisch-glykosurische Zwergwuchs mit hypophosphataemischer Rachitis. Deutsche Medizinische Wochenschrift 1936; 62: 1169–1171
- ↑ Lucas RC. On a form of late rickets associated with albuminuria, rickets of adolescence. Lancet 1883: 993–994
- ↑ De Toni G. Remarks on the relationship between renal rickets (renal dwarfism) and renal diabetes. Acta Pediatr 1933; 16: 479–484
- ↑ Debre R, Marie J, Cleret F et al. Rachitisme tardif coexistant avec une Nephrite chronique et une Glycosurie. Archive de Medicine des Enfants 1934; 37: 597–606
- ↑ Fanconi G, Bickel H (1949) Die chronische Aminoacidurie (AminosaÈ urediabetes oder nephrotisch-glukosurischer Zwerg wuchs) bei der Glykogenose und der Cystinkrankheit. Helv Paediatr Acta 4:359±396
- ↑ Klootwijk ED, Reichold M, Unwin RJ, Kleta R, Warth R, Bockenhauer D (2015). "Renal Fanconi syndrome: taking a proximal look at the nephron". Nephrol Dial Transplant. 30 (9): 1456–60. doi:10.1093/ndt/gfu377. PMID 25492894.
- ↑ Reichold M, Klootwijk ED, Reinders J, Otto EA, Milani M, Broeker C; et al. (2018). "Glycine Amidinotransferase (GATM), Renal Fanconi Syndrome, and Kidney Failure". J Am Soc Nephrol. doi:10.1681/ASN.2017111179. PMID 29654216.
- ↑ SAVILLE PD, NASSIM R, STEVENSON FH, MULLIGAN L, CAREY M (1955). "The Fanconi syndrome; metabolic studies on treatment". J Bone Joint Surg Br. 37-B (4): 529–39. PMID 13271480.