Fanconi syndrome causes
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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 could be the result or complication of various causes affecting the normal function of Proximal convoluted tubule (PCT); in a simple and useful classification method, the causes could be classified as[1][2]:
- Genetic causes
- Accumulation of a toxic substance (e.g. Cystinosis, Tyrosinemia, Lysinuric Protein Intolerance, Glycogen Storage Diseases, Galactosemia, Wilson, Fructose Intolerance)
- Energy provision failure (e.g. Mitochondriopathies)
- Disruption of endocytosis and intracellular transport mechanisms (e.g. ARC syndrome, Lowe syndrome and Dent disease).
- Exogenous causes (e.g. Heavy metals exposure, Drugs, Chemotherapy)
- Acquired causes (e.g. Multiple myeloma, Amyloidosis, Paroxysmal nocturnal hemoglobinuria)
Causes
Genetic Causes[1][2]
- Accumulation of a toxic substance
- Cystinosis
- The most common inherited cause of Fanconi syndrome in children
- Tyrosinemia
- Lysinuric Protein Intolerance
- Glycogen Storage Disease type I
- Galactosemia
- Wilson
- Fructose intolerance
- Fanconi-Bickel syndrome
- Cystinosis
- Energy provision failure
- Mitochondriopathies
- Disruption of endocytosis and intracellular transport
- Lowe syndrome
- NaPi-IIa gene mutation
- EHHADH gene mutations
- Dent disease
Exogenous causes[1][3]
- Drugs
- Antiviral & Anti-retroviral drugs
- Antibacterial Drugs
- Anticonvulsants
- Alkylating & Platinating Agents
- Cisplatin
- Streptozocin
- Carboplatin
- Ifosfamide
- Oxaplatin
- Alkylating & Platinating Agents
Acquired causes[2][1][4]
- Nephrotic syndrome
- Multiple myeloma
- Amyloidosis
- Paroxysmal nocturnal hemoglobinuria(PNH)
- Sjögren syndrome
- Renal transplantation
- Acute tubulointerstitial nephritis with uveitis (TINU) syndrome
- Autoimmune interstitial nephritis and membranous nephropathy
- Anorexia nervosa
- Untreated condition of distal renal tubular acidosis
Less Common Causes
Less common causes of Fanconi syndrome mostly found on case reports include:
- Other drugs such as: Fumaric Acid, Ranitidine, Salicylate, Methyl-3-Chromone in high doses and for long periods
- Chronic Alcohol abuse
- Crude Chinese herbal drugs (sometimes called Boui-ougi-tou)
- L-Lysine
- Glue Sniffing
- Autosomal dominant Fanconi syndrome with macrosomia and young-onset diabetes mellitus
- Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome
- Idiopathic Fanconi syndrome
Causes in Alphabetical Order
List the causes of the disease in alphabetical order.
- Adefovir
- Aminoglycosides
- Cidofovir
- Cisplatin
- Cystinosis
- Dent disease
- Didanosine
- Fanconi-Bickel syndrome
- Galactosemia
- Glycogen Storage disease (type I)
- Hereditary fructose intolerance
- Ifosfamide
- Lamivudine
- Lowe’s syndrome
- Mitochondriopathies
- Oxaplatin
- Stavudine
- Streptozocin
- Tenofovir
- Tyrosinemia
- Valproic acid
- Wilson’s disease
- Tetracyclines
References
- ↑ 1.0 1.1 1.2 1.3 Haque SK, Ariceta G, Batlle D (2012). "Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies". Nephrol Dial Transplant. 27 (12): 4273–87. doi:10.1093/ndt/gfs493. PMC 3616759. PMID 23235953.
- ↑ 2.0 2.1 2.2 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
- ↑ Izzedine H, Launay-Vacher V, Isnard-Bagnis C, Deray G (2003). "Drug-induced Fanconi's syndrome". Am J Kidney Dis. 41 (2): 292–309. doi:10.1053/ajkd.2003.50037. PMID 12552490.
- ↑ Ria R, Dammacco F, Vacca A (2018). "Heavy-Chain Diseases and Myeloma-Associated Fanconi Syndrome: an Update". Mediterr J Hematol Infect Dis. 10 (1): e2018011. doi:10.4084/MJHID.2018.011. PMC 5760076. PMID 29326807.