Fanconi syndrome epidemiology and demographics

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vahid Eidkhani, M.D.


Epidemiology and Demographics

Incidence and Prevalence

  • Fanconi syndrome is a rare condition with potential various etiologies, many of which are still being studied and has not gone further of case reports, the approximation of the disease incidence/prevalence is not available at the present time due to the low incidence/prevalence of these underlying diseases.


  • Inherited forms of the Fanconi syndrome, mostly found in the context of genetic disorders with many other clinical presentations are generally first diagnosed in early infancy (Lowe syndrome, Cystinosis, Tyrosinemia, Hereditary Fructose Intolerance) or childhood (Glycogen storage diseases, Wilson disease, Galactosemia). Except for rare instances like the A3243G mutation of the mitochondrial tRNA gene which is a genetic and adult-onset form of the disease[1][2].
  • Fanconi syndrome due to Acquired and Exogenous causes can be seen in any age group depending on the underlying cause and exposure to toxic substances.


  • No race preference is indicated for Fanconi syndrome overall. An exception is when cystinosis is the etiology and is almost exclusively seen in Caucasians although there are case reports of Black race affected infants[3].


  • Among Genetic causes of Fanconi syndrome, "Lowe syndrome", and "Dent I & II" diseases have X-linked inheritance so the clinical signs and symptoms are mostly seen in boys. Other etiologies engage both genders equally[1].


  1. 1.0 1.1 Enriko Klootwijk, Stephanie Dufek, Naomi Issler, Detlef Bockenhauer & Robert Kleta (2016)Pathophysiology, current treatments and future targets in hereditary forms of renal Fanconi syndrome,Expert Opinion on Orphan Drugs, 5:1, 45-54, DOI: 10.1080/21678707.2017.1259560
  2. Seidowsky A, Hoffmann M, Glowacki F, Dhaenens CM, Devaux JP, de Sainte Foy CL; et al. (2013). "Renal involvement in MELAS syndrome - a series of 5 cases and review of the literature". Clin Nephrol. 80 (6): 456–63. doi:10.5414/CN107063. PMID 22909780.
  3. Sochett E, Pettifor JM, Milner L, Thomson PD, Berkowitz F (1984). "Nephropathic cystinosis in black children. Case reports". S Afr Med J. 65 (10): 397–8. PMID 6701696.