Fanconi syndrome medical therapy: Difference between revisions

Jump to navigation Jump to search
VisualWikitext
No edit summary
No edit summary
 
(6 intermediate revisions by the same user not shown)
Line 1: Line 1:
__NOTOC__
__NOTOC__
{{Fanconi syndrome}}
{{Fanconi syndrome}}
{{CMG}}; {{AE}}
{{CMG}}; {{AE}} {{VE}}  


==Overview==
==Overview==
There is no treatment for [disease name]; the mainstay of therapy is supportive care.
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]]).


OR
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>.


Supportive therapy for [disease name] includes [therapy 1], [therapy 2], and [therapy 3].
Some of the most important concepts of cause-specific medical therapies is described below.  


OR
==Medical Therapy==
===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>===


The majority of cases of [disease name] are self-limited and require only supportive care.
* 1.1.1 '''Adult and Pediatric'''


OR
* '''Cystine-lowering Agents'''
 
** Preferred regimen (1): [[Cysteamine]] 60-90 mg/kg/day q.i.d. every 6 h   
[Disease name] is a medical emergency and requires prompt treatment.
** ''(specific instructions:  maximum dose should not exceed 1.95 g/m2/day/ <1 years: Safety and efficacy not established)'' 
 
*'''Chelating agents'''
OR
**Preferred regimen (2): [[D-Penicillamine]] 30 mg/kg/day PO divided q12/q6
 
*'''Rehabilitating reabsorption function'''
The mainstay of treatment for [disease name] is [therapy].
**[[Indomethacin]] 1–3 mg/kg/day q12/q8
 
OR
 
The optimal therapy for [malignancy name] depends on the stage at diagnosis.
 
OR
 
[Therapy] is recommended among all patients who develop [disease name].
 
OR
 
Pharmacologic medical therapy is recommended among patients with [disease subclass 1], [disease subclass 2], and [disease subclass 3].
 
OR
 
Pharmacologic medical therapies for [disease name] include (either) [therapy 1], [therapy 2], and/or [therapy 3].
 
OR
 
Empiric therapy for [disease name] depends on [disease factor 1] and [disease factor 2].
 
OR
 
Patients with [disease subclass 1] are treated with [therapy 1], whereas patients with [disease subclass 2] are treated with [therapy 2].
 
==Medical Therapy==
*Pharmacologic medical therapy is recommended among patients with [disease subclass 1], [disease subclass 2], and [disease subclass 3].
*Pharmacologic medical therapies for [disease name] include (either) [therapy 1], [therapy 2], and/or [therapy 3].
*Empiric therapy for [disease name] depends on [disease factor 1] and [disease factor 2].
*Patients with [disease subclass 1] are treated with [therapy 1], whereas patients with [disease subclass 2] are treated with [therapy 2].
===Disease Name===


* '''1 Stage 1 - Name of stage'''
=== 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> ===
** 1.1 '''Specific Organ system involved 1'''
* 2.1.1 '''Adult and pediatrics'''
*** 1.1.1 '''Adult'''
* '''Removal of the copper:'''
**** Preferred regimen (1): [[drug name]] 100 mg PO q12h for 10-21 days '''(Contraindications/specific instructions)''' 
** Preferred regimen (1): [[D-Penicillamine]] 20 mg/kg PO q12h
**** Preferred regimen (2): [[drug name]] 500 mg PO q8h for 14-21 days
** Alterantive regimen (1):  [[Trientine hydrochloride]] 500 to 750 mg PO q12h/q6h
**** Preferred regimen (3): [[drug name]] 500 mg q12h for 14-21 days
* '''Preventing reaccumulation:'''
**** Alternative regimen (1): [[drug name]] 500 mg PO q6h for 7–10 days 
** Preferred regimen (1): [[Zinc]] acetate PO 50 mg q8h
**** Alternative regimen (2): [[drug name]] 500 mg PO q12h for 14–21 days
**** Alternative regimen (3): [[drug name]] 500 mg PO q6h for 14–21 days
*** 1.1.2 '''Pediatric'''
**** 1.1.2.1 (Specific population e.g. '''children < 8 years of age''')
***** Preferred regimen (1): [[drug name]] 50 mg/kg PO per day q8h (maximum, 500 mg per dose) 
***** Preferred regimen (2): [[drug name]] 30 mg/kg PO per day in 2 divided doses (maximum, 500 mg per dose)
***** Alternative regimen (1): [[drug name]]10 mg/kg PO q6h (maximum, 500 mg per day)
***** Alternative regimen (2): [[drug name]] 7.5 mg/kg PO q12h (maximum, 500 mg per dose)
***** Alternative regimen (3): [[drug name]] 12.5 mg/kg PO q6h (maximum, 500 mg per dose)
****1.1.2.2 (Specific population e.g. ''''''children < 8 years of age'''''')
***** Preferred regimen (1): [[drug name]] 4 mg/kg/day PO q12h（maximum, 100 mg per dose）
***** Alternative regimen (1): [[drug name]] 10 mg/kg PO q6h (maximum, 500 mg per day)
***** Alternative regimen (2): [[drug name]] 7.5 mg/kg PO q12h (maximum, 500 mg per dose) 
***** Alternative regimen (3): [[drug name]] 12.5 mg/kg PO q6h (maximum, 500 mg per dose)
** 1.2 '''Specific Organ system involved 2'''
*** 1.2.1 '''Adult'''
**** Preferred regimen (1): [[drug name]] 500 mg PO q8h
*** 1.2.2  '''Pediatric'''
**** Preferred regimen (1): [[drug name]] 50 mg/kg/day PO q8h (maximum, 500 mg per dose)


* 2 '''Stage 2 - Name of stage'''
=== 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 '''Specific Organ system involved 1 '''
* 2.1.1 '''Adult and pediatrics'''
**: '''Note (1):'''
*  Preferred regimen (1): [[NTBC]] 0.6-1 mg/kg/day
**: '''Note (2)''':
**: '''Note (3):'''
*** 2.1.1 '''Adult'''
**** Parenteral regimen
***** Preferred regimen (1): [[drug name]] 2 g IV q24h for 14 (14–21) days
***** Alternative regimen (1): [[drug name]] 2 g IV q8h for 14 (14–21) days
***** Alternative regimen (2): [[drug name]] 18–24 MU/day IV q4h for 14 (14–21) days
**** Oral regimen
***** Preferred regimen (1): [[drug name]] 500 mg PO q8h for 14 (14–21) days
***** Preferred regimen (2): [[drug name]] 100 mg PO q12h for 14 (14–21) days
***** Preferred regimen (3): [[drug name]] 500 mg PO q12h for 14 (14–21) days
***** Alternative regimen (1): [[drug name]] 500 mg PO q6h for 7–10 days 
***** Alternative regimen (2): [[drug name]] 500 mg PO q12h for 14–21 days
***** Alternative regimen (3):[[drug name]] 500 mg PO q6h for 14–21 days
*** 2.1.2 '''Pediatric'''
**** Parenteral regimen
***** Preferred regimen (1): [[drug name]] 50–75 mg/kg IV q24h for 14 (14–21) days (maximum, 2 g)
***** Alternative regimen (1): [[drug name]] 150–200 mg/kg/day IV q6–8h for 14 (14–21) days (maximum, 6 g per day)
***** Alternative regimen (2):  [[drug name]] 200,000–400,000 U/kg/day IV q4h for 14 (14–21) days (maximum, 18–24 million U per day) ''''''(Contraindications/specific instructions)''''''
**** Oral regimen
***** Preferred regimen (1):  [[drug name]] 50 mg/kg/day PO q8h for 14 (14–21) days  (maximum, 500 mg per dose)
***** Preferred regimen (2): [[drug name]] '''(for children aged ≥ 8 years)''' 4 mg/kg/day PO q12h for 14 (14–21) days (maximum, 100 mg per dose)
***** Preferred regimen (3): [[drug name]] 30 mg/kg/day PO q12h for 14 (14–21) days  (maximum, 500 mg per dose)
***** Alternative regimen (1):  [[drug name]] 10 mg/kg PO q6h 7–10 days  (maximum, 500 mg per day)
***** Alternative regimen (2): [[drug name]] 7.5 mg/kg PO q12h for 14–21 days  (maximum, 500 mg per dose)
***** Alternative regimen (3): [[drug name]] 12.5 mg/kg PO q6h for 14–21 days  (maximum,500 mg per dose)
** 2.2 '<nowiki/>'''''Other Organ system involved 2''''''
**: '''Note (1):'''
**: '''Note (2)''':
**: '''Note (3):'''
*** 2.2.1 '''Adult'''
**** Parenteral regimen
***** Preferred regimen (1): [[drug name]] 2 g IV q24h for 14 (14–21) days
***** Alternative regimen (1): [[drug name]] 2 g IV q8h for 14 (14–21) days
***** Alternative regimen (2): [[drug name]] 18–24 MU/day IV q4h for 14 (14–21) days
**** Oral regimen
***** Preferred regimen (1): [[drug name]] 500 mg PO q8h for 14 (14–21) days
***** Preferred regimen (2): [[drug name]] 100 mg PO q12h for 14 (14–21) days
***** Preferred regimen (3): [[drug name]] 500 mg PO q12h for 14 (14–21) days
***** Alternative regimen (1): [[drug name]] 500 mg PO q6h for 7–10 days 
***** Alternative regimen (2): [[drug name]] 500 mg PO q12h for 14–21 days
***** Alternative regimen (3):[[drug name]] 500 mg PO q6h for 14–21 days
*** 2.2.2 '''Pediatric'''
**** Parenteral regimen
***** Preferred regimen (1): [[drug name]] 50–75 mg/kg IV q24h for 14 (14–21) days (maximum, 2 g)
***** Alternative regimen (1): [[drug name]] 150–200 mg/kg/day IV q6–8h for 14 (14–21) days (maximum, 6 g per day)
***** Alternative regimen (2):  [[drug name]] 200,000–400,000 U/kg/day IV q4h for 14 (14–21) days (maximum, 18–24 million U per day)
**** Oral regimen
***** Preferred regimen (1):  [[drug name]] 50 mg/kg/day PO q8h for 14 (14–21) days  (maximum, 500 mg per dose)
***** Preferred regimen (2): [[drug name]] 4 mg/kg/day PO q12h for 14 (14–21) days (maximum, 100 mg per dose)
***** Preferred regimen (3): [[drug name]] 30 mg/kg/day PO q12h for 14 (14–21) days  (maximum, 500 mg per dose)
***** Alternative regimen (1):  [[drug name]] 10 mg/kg PO q6h 7–10 days  (maximum, 500 mg per day)
***** Alternative regimen (2): [[drug name]] 7.5 mg/kg PO q12h for 14–21 days  (maximum, 500 mg per dose)
***** Alternative regimen (3): [[drug name]] 12.5 mg/kg PO q6h for 14–21 days  (maximum,500 mg per dose)


==References==
==References==

Latest revision as of 16:41, 21 July 2018

Fanconi syndrome Microchapters

Home

Patient Information

Overview

Historical Perspective

Classification

Pathophysiology

Causes

Differentiating Fanconi syndrome from other Diseases

Epidemiology and Demographics

Risk Factors

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Study Of Choice

History and Symptoms

Physical Examination

Laboratory Findings

X Ray

CT scan

MRI

Other Imaging Findings

Other Diagnostic Studies

Treatment

Medical Therapy

Surgery

Primary Prevention

Secondary Prevention

Cost-Effectiveness of Therapy

Future or Investigational Therapies

Case Studies

Case #1

Fanconi syndrome medical therapy On the Web

Most recent articles

Most cited articles

Review articles

CME Programs

Powerpoint slides

Images

American Roentgen Ray Society Images of Fanconi syndrome medical therapy

All Images
X-rays
Echo & Ultrasound
CT Images
MRI

Ongoing Trials at Clinical Trials.gov

US National Guidelines Clearinghouse

NICE Guidance

FDA on Fanconi syndrome medical therapy

CDC on Fanconi syndrome medical therapy

Fanconi syndrome medical therapy in the news

Blogs on Fanconi syndrome medical therapy

Directions to Hospitals Treating Fanconi syndrome

Risk calculators and risk factors for Fanconi syndrome medical therapy

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
  • Rehabilitating reabsorption function

Fanconi syndrome due to Wilson disease[5]

  • 2.1.1 Adult and pediatrics
  • Removal of the copper:
  • 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

  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. ↑ 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
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ Walshe JM (1996). "Treatment of Wilson's disease: the historical background". QJM. 89 (7): 553–5. PMID 8759497. Unknown parameter |month= ignored (help)
  6. ↑ 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.

Template:WH Template:WS

Retrieved from "https://www.wikidoc.org/index.php?title=Fanconi_syndrome_medical_therapy&oldid=1484329"