Fanconi syndrome

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

WikiDoc Resources for Fanconi syndrome
Articles
Most recent articles on Fanconi syndrome Most cited articles on Fanconi syndrome Review articles on Fanconi syndrome Articles on Fanconi syndrome in N Eng J Med, Lancet, BMJ
Media
Powerpoint slides on Fanconi syndrome Images of Fanconi syndrome Photos of Fanconi syndrome Podcasts & MP3s on Fanconi syndrome Videos on Fanconi syndrome
Evidence Based Medicine
Cochrane Collaboration on Fanconi syndrome Bandolier on Fanconi syndrome TRIP on Fanconi syndrome
Clinical Trials
Ongoing Trials on Fanconi syndrome at Clinical Trials.gov Trial results on Fanconi syndrome Clinical Trials on Fanconi syndrome at Google
Guidelines / Policies / Govt
US National Guidelines Clearinghouse on Fanconi syndrome NICE Guidance on Fanconi syndrome NHS PRODIGY Guidance FDA on Fanconi syndrome CDC on Fanconi syndrome
Books
Books on Fanconi syndrome
News
Fanconi syndrome in the news Be alerted to news on Fanconi syndrome News trends on Fanconi syndrome
Commentary
Blogs on Fanconi syndrome
Definitions
Definitions of Fanconi syndrome
Patient Resources / Community
Patient resources on Fanconi syndrome Discussion groups on Fanconi syndrome Patient Handouts on Fanconi syndrome Directions to Hospitals Treating Fanconi syndrome Risk calculators and risk factors for Fanconi syndrome
Healthcare Provider Resources
Symptoms of Fanconi syndrome Causes & Risk Factors for Fanconi syndrome Diagnostic studies for Fanconi syndrome Treatment of Fanconi syndrome
Continuing Medical Education (CME)
CME Programs on Fanconi syndrome
International
Fanconi syndrome en Espanol Fanconi syndrome en Francais
Business
Fanconi syndrome in the Marketplace Patents on Fanconi syndrome
Experimental / Informatics
List of terms related to Fanconi syndrome

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Overview

Fanconi syndrome is a disorder in which the proximal tubular function of the kidney is impaired, resulting in decreased reabsorption of electrolytes and nutrients back into the bloodstream. Compounds involved include glucose, amino acids, uric acid, phosphate and bicarbonate.

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.

It is named after Guido Fanconi, a Swiss pediatrician; this may be a misnomer since Fanconi himself never identified it as a syndrome.

It should not be confused with Fanconi anemia, a separate disease.

Causes

There are different diseases underlying Fanconi syndrome. They can be 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.

Symptoms

Main article: 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

• Hypophosphatemia/Phosphaturia
• Glycosuria
• Proteinuria/Aminoaciduria
• Uricosuria

Treatment

Treatment of children with Fanconi syndrome mainly consists of replacement of substances lost in the urine (mainly fluid and bicarbonate).