Fanconi syndrome medical therapy

Jump to navigation Jump to search

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