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{{Fanconi syndrome}} | {{Fanconi syndrome}} | ||
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==Overview== | |||
Definitive treatment of Fanconi syndrome in most of the cases is the treatment of the underlying cause( which sometimes is not practical) and resolving the exposure to the contributor compounds(In exogenous causes/[[Tyrosinemia]]/ [[Galactosemia]]/ [[Hereditary fructose intolerance]]). | |||
Symptomatic treatment involves replacement therapy which is the current mainstay of therapy. Replacement therapy regimen is depended on the severity of disease and the extent of urinary loss of each ingredient and therefore varies substantially among individuals<ref>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>. Correction of [[metabolic acidosis]], [[dehydration]], [[vitamin D]], Na+, K+ and [[phosphate]] levels requires more attention<ref>Igarashi T. (2014) Pediatric Fanconi Syndrome. In: Avner E., Harmon W., Niaudet P., Yoshikawa N., Emma F., Goldstein S. (eds) Pediatric Nephrology. Springer, Berlin, Heidelberg</ref>. | |||
Some of the most important concepts of cause-specific medical therapies is described below. | |||
==Medical Therapy== | ==Medical Therapy== | ||
Treatment of | ===Fanconi syndrome due to Cystinosis<ref name="pmid7031022">{{cite journal| author=Bergonzi E, Herren A, Lavanchy P, Bühlmann C, Wyss SR, Lüthy C et al.| title=Treatment of cystinosis with cysteamine. A pilot study determining dose and form of application. | journal=Helv Paediatr Acta | year= 1981 | volume= 36 | issue= 5 | pages= 437-43 | pmid=7031022 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7031022 }}</ref><ref name="pmid25165189">{{cite journal| author=Emma F, Nesterova G, Langman C, Labbé A, Cherqui S, Goodyer P et al.| title=Nephropathic cystinosis: an international consensus document. | journal=Nephrol Dial Transplant | year= 2014 | volume= 29 Suppl 4 | issue= | pages= iv87-94 | pmid=25165189 | doi=10.1093/ndt/gfu090 | pmc=4158338 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25165189 }}</ref>=== | ||
* 1.1.1 '''Adult and Pediatric''' | |||
* '''Cystine-lowering Agents''' | |||
** Preferred regimen (1): [[Cysteamine]] 60-90 mg/kg/day q.i.d. every 6 h | |||
** ''(specific instructions: maximum dose should not exceed 1.95 g/m2/day/ <1 years: Safety and efficacy not established)'' | |||
*'''Chelating agents''' | |||
**Preferred regimen (2): [[D-Penicillamine]] 30 mg/kg/day PO divided q12/q6 | |||
*'''Rehabilitating reabsorption function''' | |||
**[[Indomethacin]] 1–3 mg/kg/day q12/q8 | |||
=== Fanconi syndrome due to Wilson disease<ref name="Walshe1996">{{cite journal |author=Walshe JM |title=Treatment of Wilson's disease: the historical background |journal=QJM |volume=89 |issue=7 |pages=553–5 |year=1996|month=July |pmid=8759497}}</ref> === | |||
* 2.1.1 '''Adult and pediatrics''' | |||
* '''Removal of the copper:''' | |||
** Preferred regimen (1): [[D-Penicillamine]] 20 mg/kg PO q12h | |||
** Alterantive regimen (1): [[Trientine hydrochloride]] 500 to 750 mg PO q12h/q6h | |||
* '''Preventing reaccumulation:''' | |||
** Preferred regimen (1): [[Zinc]] acetate PO 50 mg q8h | |||
=== Fanconi syndrome due to Tyrosinemia<ref name="pmid19882170">{{cite journal| author=El-Karaksy H, Rashed M, El-Sayed R, El-Raziky M, El-Koofy N, El-Hawary M et al.| title=Clinical practice. NTBC therapy for tyrosinemia type 1: how much is enough? | journal=Eur J Pediatr | year= 2010 | volume= 169 | issue= 6 | pages= 689-93 | pmid=19882170 | doi=10.1007/s00431-009-1090-1 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19882170 }}</ref> === | |||
* 2.1.1 '''Adult and pediatrics''' | |||
* Preferred regimen (1): [[NTBC]] 0.6-1 mg/kg/day | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
{{WH}} | |||
{{WS}} | |||
[[Category: (name of the system)]] | |||
[[Category: | |||
Latest revision as of 16:41, 21 July 2018
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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
Definitive treatment of Fanconi syndrome in most of the cases is the treatment of the underlying cause( which sometimes is not practical) and resolving the exposure to the contributor compounds(In exogenous causes/Tyrosinemia/ Galactosemia/ Hereditary fructose intolerance).
Symptomatic treatment involves replacement therapy which is the current mainstay of therapy. Replacement therapy regimen is depended on the severity of disease and the extent of urinary loss of each ingredient and therefore varies substantially among individuals[1]. Correction of metabolic acidosis, dehydration, vitamin D, Na+, K+ and phosphate levels requires more attention[2].
Some of the most important concepts of cause-specific medical therapies is described below.
Medical Therapy
Fanconi syndrome due to Cystinosis[3][4]
- 1.1.1 Adult and Pediatric
- Cystine-lowering Agents
- Preferred regimen (1): Cysteamine 60-90 mg/kg/day q.i.d. every 6 h
- (specific instructions: maximum dose should not exceed 1.95 g/m2/day/ <1 years: Safety and efficacy not established)
- Chelating agents
- Preferred regimen (2): D-Penicillamine 30 mg/kg/day PO divided q12/q6
- Rehabilitating reabsorption function
- Indomethacin 1–3 mg/kg/day q12/q8
Fanconi syndrome due to Wilson disease[5]
- 2.1.1 Adult and pediatrics
- Removal of the copper:
- Preferred regimen (1): D-Penicillamine 20 mg/kg PO q12h
- Alterantive regimen (1): Trientine hydrochloride 500 to 750 mg PO q12h/q6h
- Preventing reaccumulation:
- Preferred regimen (1): Zinc acetate PO 50 mg q8h
Fanconi syndrome due to Tyrosinemia[6]
- 2.1.1 Adult and pediatrics
- Preferred regimen (1): NTBC 0.6-1 mg/kg/day
References
- ↑ 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
- ↑ Igarashi T. (2014) Pediatric Fanconi Syndrome. In: Avner E., Harmon W., Niaudet P., Yoshikawa N., Emma F., Goldstein S. (eds) Pediatric Nephrology. Springer, Berlin, Heidelberg
- ↑ Bergonzi E, Herren A, Lavanchy P, Bühlmann C, Wyss SR, Lüthy C; et al. (1981). "Treatment of cystinosis with cysteamine. A pilot study determining dose and form of application". Helv Paediatr Acta. 36 (5): 437–43. PMID 7031022.
- ↑ Emma F, Nesterova G, Langman C, Labbé A, Cherqui S, Goodyer P; et al. (2014). "Nephropathic cystinosis: an international consensus document". Nephrol Dial Transplant. 29 Suppl 4: iv87–94. doi:10.1093/ndt/gfu090. PMC 4158338. PMID 25165189.
- ↑ Walshe JM (1996). "Treatment of Wilson's disease: the historical background". QJM. 89 (7): 553–5. PMID 8759497. Unknown parameter
|month=ignored (help) - ↑ El-Karaksy H, Rashed M, El-Sayed R, El-Raziky M, El-Koofy N, El-Hawary M; et al. (2010). "Clinical practice. NTBC therapy for tyrosinemia type 1: how much is enough?". Eur J Pediatr. 169 (6): 689–93. doi:10.1007/s00431-009-1090-1. PMID 19882170.