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{{SI}}
'''For patient information, click [[Fanconi syndrome (patient information)|here]].'''
{{CMG}}


==Overview==
{{Fanconi syndrome}}
Fanconi syndrome is a disorder in which the [[Nephron#Proximal_tubule| proximal tubular]] function of the [[kidney]] is impaired, resulting in decreased reabsorption of [[electrolyte]]s and [[nutrient]]s back into the [[bloodstream]]. Compounds involved include [[glucose]], [[amino acid]]s, [[uric acid]], [[phosphate]] and [[bicarbonate]].
{{CMG}}; {{AE}} {{VE}}


The reduced reabsorption of [[bicarbonate]] results in type 2 or proximal [[renal tubular acidosis]], which may in some cases exist on its own, or more usually in combination with the Fanconi syndrome.
{{SK}} Proximal renal tubular acidosis; RTA2; Fanconi's syndrome; De Toni-Fanconi syndrome


It is named after [[Guido Fanconi]], a Swiss [[pediatrician]]; this may be a misnomer since Fanconi himself never identified it as a syndrome.
==[[Fanconi syndrome overview|Overview]]==


It should not be confused with [[Fanconi anemia]], a separate disease.
==[[Fanconi syndrome historical perspective|Historical Perspective]]==


==Causes==
==[[Fanconi syndrome pathophysiology|Pathophysiology]]==
There are different diseases underlying Fanconi syndrome. They can be [[inheritance|inherited]]/[[congenital]] as well as acquired. [[Cystinosis]] is the most common cause of Fanconi syndrome in children; however, it is possible to acquire this disease later on in life. Other recognised causes of Fanconi's syndrome are Wilson's disease (a genetically inherited condition of copper metabolism), fructose intolerance, ingesting expired [[tetracyclines]], and as a side effect of [[tenofovir]].
 
==[[Fanconi syndrome causes|Causes]]==
 
==[[Fanconi syndrome differential diagnosis|Differentiating Fanconi syndrome from other Diseases]]==
 
==[[Fanconi syndrome epidemiology and demographics|Epidemiology and Demographics]]==
 
==[[Fanconi syndrome natural history, complications and prognosis|Natural History, Complications and Prognosis]]==


==Diagnosis==
==Diagnosis==
==Symptoms==
[[Fanconi syndrome history and symptoms|History and Symptoms]] | [[Fanconi syndrome physical examination|Physical Examination]] | [[Fanconi syndrome laboratory findings|Laboratory Findings]] | [[Fanconi syndrome x ray|X Ray]] | [[Fanconi syndrome other imaging findings|Other Imaging Findings]] | [[Fanconi syndrome other diagnostic studies|Other Diagnostic Studies]]
{{main|Renal tubular acidosis}}
Are the clinical features of proximal renal tubular acidosis:
* [[Polyuria]], [[polydipsia]] and [[dehydration]]
* [[Rickets]] (in children) and [[osteomalacia]] (in adults)
* [[Growth failure]]
* [[Acidosis]]
* [[Hypokalemia]]


And the other features of the generalised proximal tubular dysfunction of the Fanconi syndrome
==Treatment==
* [[Hypophosphatemia]]/Phosphaturia
* [[Glycosuria]]
* [[Proteinuria]]/Aminoaciduria
* [[Uricosuria]]


==Treatment==
[[Fanconi syndrome medical therapy|Medical Therapy]] | [[Fanconi syndrome primary prevention|Primary Prevention]] | [[Fanconi syndrome secondary prevention|Secondary Prevention]] | [[Fanconi syndrome cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Fanconi syndrome future or investigational therapies|Future or Investigational Therapies]]
Treatment of children with Fanconi syndrome mainly consists of replacement of substances lost in the [[urine]] (mainly fluid and bicarbonate).


==References==
==Case Studies==
{{Reflist|2}}
[[Fanconi syndrome case study one|Case #1]]


{{Metabolic pathology}}
{{Metabolic pathology}}
{{Nephrology}}
{{Nephrology}}


[[Category:Organ disorders]]
[[Category:Organ disorders]]
[[Category:Kidney diseases]]
[[Category:Kidney diseases]]
[[Category:Disease]]


[[de:De Toni Fanconi Syndrom]]
[[de:De Toni Fanconi Syndrom]]

Latest revision as of 16:16, 21 July 2018

Fanconi syndrome
ICD-10 E72.0
ICD-9 270.0
DiseasesDB 11687
MeSH D005198

For patient information, click here.

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vahid Eidkhani, M.D.

Synonyms and keywords: Proximal renal tubular acidosis; RTA2; Fanconi's syndrome; De Toni-Fanconi syndrome

Overview

Historical Perspective

Pathophysiology

Causes

Differentiating Fanconi syndrome from other Diseases

Epidemiology and Demographics

Natural History, Complications and Prognosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | X Ray | Other Imaging Findings | Other Diagnostic Studies

Treatment

Medical Therapy | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case #1

Template:Metabolic pathology Template:Nephrology

de:De Toni Fanconi Syndrom

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