Fanconi syndrome causes: Difference between revisions
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{{Fanconi syndrome}} | {{Fanconi syndrome}} | ||
{{CMG}}; {{AE}} | {{CMG}}; {{AE}} {{VE}} | ||
==Overview== | ==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<ref name="pmid23235953">{{cite journal| author=Haque SK, Ariceta G, Batlle D| title=Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies. | journal=Nephrol Dial Transplant | year= 2012 | volume= 27 | issue= 12 | pages= 4273-87 | pmid=23235953 | doi=10.1093/ndt/gfs493 | pmc=3616759 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23235953 }}</ref><ref name=":0">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</ref>: | 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<ref name="pmid23235953">{{cite journal| author=Haque SK, Ariceta G, Batlle D| title=Proximal renal tubular acidosis: a not so rare disorder of multiple etiologies. | journal=Nephrol Dial Transplant | year= 2012 | volume= 27 | issue= 12 | pages= 4273-87 | pmid=23235953 | doi=10.1093/ndt/gfs493 | pmc=3616759 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23235953 }}</ref><ref name=":0">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</ref>: | ||
* '''Genetic causes''' | * '''Genetic causes''' | ||
** ''Accumulation of a toxic substance'' (e.g. [[Cystinosis]], [[Tyrosinemia]], Lysinuric Protein Intolerance, [[Glycogen storage disease|Glycogen Storage Diseases]], [[Galactosemia]], [[Wilson's disease|Wilson]], [[Hereditary Fructose Intolerance|Fructose Intolerance]]) | ** ''Accumulation of a toxic substance'' (e.g. [[Cystinosis]], [[Tyrosinemia]], Lysinuric Protein Intolerance, [[Glycogen storage disease|Glycogen Storage Diseases]], [[Galactosemia]], [[Wilson's disease|Wilson]], [[Hereditary Fructose Intolerance|Fructose Intolerance]]) | ||
** ''Energy provision failure'' (e.g. Mitochondriopathies) | ** ''Energy provision failure'' (e.g. Mitochondriopathies) | ||
** ''Disruption of [[endocytosis]] and | ** ''Disruption of [[endocytosis]] and intracellular transport mechanisms'' (e.g. ARC syndrome, [[Oculocerebrorenal syndrome|Lowe syndrome]] and [[Dent's disease|Dent disease]]). | ||
* '''Exogenous causes''' (e.g. Heavy metals exposure, Drugs, Chemotherapy) | * '''Exogenous causes''' (e.g. Heavy metals exposure, Drugs, Chemotherapy) | ||
* '''Acquired causes''' (e.g. [[Multiple myeloma]], [[Amyloidosis]], [[Paroxysmal nocturnal hemoglobinuria]]) | * '''Acquired causes''' (e.g. [[Multiple myeloma]], [[Amyloidosis]], [[Paroxysmal nocturnal hemoglobinuria]]) | ||
| Line 27: | Line 27: | ||
* '''Energy provision failure''' | * '''Energy provision failure''' | ||
** Mitochondriopathies | ** Mitochondriopathies | ||
* '''Disruption of endocytosis and | * '''Disruption of endocytosis and intracellular transport''' | ||
** [[Oculocerebrorenal syndrome|Lowe syndrome]] | ** [[Oculocerebrorenal syndrome|Lowe syndrome]] | ||
** NaPi-IIa gene mutation | ** NaPi-IIa gene mutation | ||
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=== '''Exogenous causes'''<ref name="pmid23235953" /><ref name="pmid125524902">{{cite journal| author=Izzedine H, Launay-Vacher V, Isnard-Bagnis C, Deray G| title=Drug-induced Fanconi's syndrome. | journal=Am J Kidney Dis | year= 2003 | volume= 41 | issue= 2 | pages= 292-309 | pmid=12552490 | doi=10.1053/ajkd.2003.50037 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12552490 }}</ref> === | === '''Exogenous causes'''<ref name="pmid23235953" /><ref name="pmid125524902">{{cite journal| author=Izzedine H, Launay-Vacher V, Isnard-Bagnis C, Deray G| title=Drug-induced Fanconi's syndrome. | journal=Am J Kidney Dis | year= 2003 | volume= 41 | issue= 2 | pages= 292-309 | pmid=12552490 | doi=10.1053/ajkd.2003.50037 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12552490 }}</ref> === | ||
* '''Drugs''' | * '''Drugs''' | ||
** | ** Antiviral & Anti-retroviral drugs | ||
*** ''[[Adefovir]]'' | *** ''[[Adefovir]]'' | ||
*** ''[[Tenofovir]]'' | *** ''[[Tenofovir]]'' | ||
| Line 86: | Line 86: | ||
*[[L-Lysine]] | *[[L-Lysine]] | ||
*Glue Sniffing | *Glue Sniffing | ||
*Autosomal dominant Fanconi syndrome with macrosomia and [[Maturity onset diabetes of the young|young onset diabetes mellitus]] | *Autosomal dominant Fanconi syndrome with macrosomia and [[Maturity onset diabetes of the young|young-onset diabetes mellitus]] | ||
*Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome | *Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome | ||
*Idiopathic Fanconi syndrome | *Idiopathic Fanconi syndrome | ||
| Line 92: | Line 92: | ||
===Causes in Alphabetical Order=== | ===Causes in Alphabetical Order=== | ||
List the causes of the disease in alphabetical order. | List the causes of the disease in alphabetical order. | ||
{{columns-list | {{columns-list| | ||
*Adefovir | *Adefovir | ||
*Aminoglycosides | *Aminoglycosides | ||
Latest revision as of 20:56, 10 January 2020
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Fanconi syndrome Microchapters |
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Fanconi syndrome causes On the Web |
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Risk calculators and risk factors for Fanconi syndrome causes |
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.